Pediatric Plastic and Reconstructive Surgery

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Thieme

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Pediatric Plastic and Reconstructive Surgery
Arin K. Greene, MD, MMSc
Associate Professor of Surgery
Harvard Medical School
Attending Plastic Surgeon
Boston Children’s Hospital
Boston, Massachusetts
455 illustrations
Thieme
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Library of Congress Cataloging-in-Publication Data
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Title: Pediatric plastic and reconstructive surgery / [edited by] Arin
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Description: New York : Thieme, [2018] | Includes bibliographical
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Identi ers: LCCN 2017046567| ISBN 9781626232624 | ISBN
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Subjects: | MESH: Reconstructive Surgical Procedures | Child
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This book is dedicated to patients with pediatric plastic surgical diseases—I hope it improves their quality of life.

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Contents
Preface . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . x
Acknowledgments. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xi
Contributors . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xii
I

Craniofacial Disorders
Gary F. Rogers
1

Craniosynostosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2
Gary F. Rogers and Stephen M. Warren
2

Craniofacial Syndromes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 16
Kerry A. Morrison, Thomas A. Imahiyerobo, and June K. Wu
3

Deformational Plagiocephaly, Brachycephaly, and Scaphocephaly. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 28
Gary F. Rogers and Benjamin C. Wood
4

Craniofacial Microsomia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 34
Patrick A. Gerety, Albert K. Oh, and Jesse A. Taylor
5

Orbital Hypertelorism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 44
Robin Yang, Srinivas M. Susarla, and Anand Kumar
6

Rare Craniofacial Clefts. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 51
Cassio Raposo, Rizal Lim, and Reza Jarrahy
7

Facial Fractures. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 63
S. Alex Rottgers and Joseph Edward Losee
8

Cranioplasty . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 73
Arin K. Greene and Gary F. Rogers
9

Osseous Lesions of the Craniofacial Region . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 81
Salim Afshar
10
Distraction Osteogenesis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 99
Elizabeth Zellner and Derek M. Steinbacher
11
Orthognathic Correction of Jaw Deformities . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 112
Rushil Dang and Cory M. Resnick
II

Cleft Lip and Palate
Arin K. Greene
12
Dental and Orthodontic Management of Cleft Lip and Palate . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 120
Richard Bruun and Stephen Shusterman
13
Unilateral Cleft Lip . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 133
Ananth S. Murthy and Paul Durand
vii

14
Bilateral Cleft Lip. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 149
Alexander C. Allori
15
Cleft Palate . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 156
Ingrid Ganske and Carolyn R. Rogers-Vizena
16
Robin’s Sequence . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 163
Noopur Gangopadhyay and Kamlesh B. Patel
17
Secondary Cleft Lip and Nasal Reconstruction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 169
Michael Alperovich and Roberto L. Flores
18
Velopharyngeal Dysfunction. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 177
Jenny T. Chen, Maia N. Braden, Joseph Lopez, Timothy W. King, Anand Kumar, and Howard Wang
III

Soft-Tissue Deformities of the Head and Neck
Arin K. Greene
19
Soft-Tissue Injuries. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 186
Arin K. Greene
20
Ear Reconstruction. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 195
Arin K. Greene
21
Microtia. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 210
Akira Yamada
22
Nasal Reconstruction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 221
Alexander Facque and Peter J. Taub
23
Facial Paralysis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 227
Greg Borschel
24
Scalp, Cheek, and Neck Deformities . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 243
Arin K. Greene
IV
Trunk and Lower Extremity
Brian I. Labow
25
Macromastia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 254
Laura C. Nuzzi and Brian I. Labow
26
Gynecomastia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 258
Laura C. Nuzzi and Brian I. Labow
27
Breast Asymmetry . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 264
Laura C. Nuzzi and Brian I. Labow
28
Anterior Trunk Disorders. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 271
Carolyn M. Pike and Brian I. Labow
29
Posterior Trunk Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 277
Arin K. Greene
Contents
viii

30
Genital Anomalies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 283
Sami H. Tu aha and Richard J. Redett
31
Lower Extremity . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 292
Arin K. Greene and Amir H. Taghinia
V

Upper Extremity
Amir H. Taghinia
32
Embryology and Classification of Hand Di erences . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 304
Bran Sivakumar and Gill Smith
33
Disorders of Failure of Formation in the Upper Limb . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 309
Dariush Nikkhah and Bran Sivakumar
34
Thumb Hypoplasia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 315
Amir H. Taghinia and Joseph Upton
35
Syndactyly. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 325
Simon G. Frank and Amir H. Taghinia
36
Polydactyly . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 332
Paige M. Fox, Heather L. Baltzer, and Steven L. Moran
37
Macrodactyly. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 340
Carolyn M. Pike and Brian I. Labow
38
Brachial Plexus Palsies. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 343
Raymond Tse and Angelo B. Lipira
39
Pediatric Hand Trauma . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 372
Amir H. Taghinia
VI
Integument
Arin K. Greene
40
Vascular Anomalies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 382
Arin K. Greene
41
Burns. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 394
Matthias B. Donelan and Branko Bojovic
42
Melanocytic Nevi . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 403
Aladdin H. Hassanein and Arin K. Greene
43
Pediatric Skin Lesions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 411
Aladdin H. Hassanein and Arin K. Greene
Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 418
Contents
ix

Preface
The eld of pediatric plastic surgery is evolving. Plastic
surgeons who sought specialty training in pediatric condi-
tions classically ful lled a “craniofacial” fellowship often
focused on craniofacial syndromes, craniosynostosis, and
cleft lip/palate. This paradigm has been changing and many
plastic surgeons interested in treating children seek
broader education. Plastic surgeons working in a children’s
hospital understand that “craniofacial” problems comprise
only a portion of pediatric plastic surgical diseases.
The goal of this book is to provide a comprehensive
reference for pediatric plastic surgeons, fellows, residents,
medical students, and allied health professionals. The text
was designed to be clinically oriented, rather than focused
on history or research. The book was written to be a single
volume, easy-to-read resource that highlights principles.
Authors and section editors were chosen because of their
expertise on their respective topic(s). The book was orga-
nized by what I consider to be the major categories of
pediatric plastic surgical diseases: Craniofacial Disorders,
Cleft Lip and Palate, Soft Tissue Deformities of the Head and
Neck, Trunk and Lower Extremity, Upper Extremity, and
Integument. In addition to serving as a roadmap for the
treatment ofpatients,my hope is that the text can be used as
a resource for more in-depth study of a subject, teaching,
and/or research.Ideally,it will stimulate readers to innovate
and improve patient management.
x

Acknowledgments
I want to thank my colleagues who served as Section
Editors: Brian Labow, Gary Rogers, and Amir Taghinia. I am
fortunate to have had signi cant mentors, and I am grateful
to them: Steven Fishman, Judah Folkman, Robert Goldwyn,
John Meara, James May, John Mulliken, Sumner Slavin, and
Francis Wolfort. I appreciate the work of Timothy Hiscock,
Keith Palumbo, Elizabeth Palumbo, Sue Hodgson, and
Thieme Publishers who did an outstanding job putting the
book together. Finally, I want to thank my wife, Sarah, and
three boys, Albert, Mac, and Henry, who encourage my
passion to improve the lives of patients.
xi

Contributors
Salim Afshar, DMD, MD
Attending Surgeon
Boston Children’s Hospital
Boston, Massachusetts
Alexander C. Allori, MD, MPH
Assistant Professor, Pediatric Plastic & Craniofacial Surgery
Director, Quality & Safety for Children’s Surgery
Surgeon Champion, NSQIP–Pediatric
Director, DataLab for Clinical Care & Population Health
Durham, North Carolina
Michael Alperovich, MD, MSc
Assistant Professor of Surgery
Yale University School of Medicine
New Haven, Connecticut
Heather L. Baltzer, MD, MS, FRCS
Assistant Professor Department of Surgery
Division of Plastic and Orthopaedic Surgery
Toronto Western Hospital
Toronto, Ontario, Canada
Branko Bojovic, MD
Chief of Plastic Surgery
Shriners Hospitals for Children
Boston, Massachusetts
Assistant in Surgery
Department of Surgery, Division of Plastic and
Reconstructive Surgery
Massachusetts General Hospital and Shriners Hospitals
for Children
Boston, Massachusetts
Greg Borschel, MD, FACS, FAAP
Associate Professor, University of Toronto and The Hospital
for Sick Children
Program in Neuroscience, SickKids Research Institute
Toronto, Ontario, Canada
Maia N. Braden
Speech Language Pathologist
University of Wisconsin School of Medicine and Public
Health
Madison, Wisconsin
Richard Bruun
Craniofacial Orthodontist & Senior Associate in Dentistry
Boston Children’s Hospital
Boston, Massachusetts
Assistant Professor of Developmental Biology, part-time
Harvard School of Dental Medicine
Boston, Massachusetts
Jenny T. Chen
Craniofacial Fellow
Children’s Healthcare of Atlanta
Atlanta, Georgia
Rushil Dang, BDS, DMD
Resident Oral and Maxillofacial Surgery
Boston Medical Center
Boston, Massachusetts
Matthias B. Donelan, MD
Chief of Staff
Shriners Hospitals for Children
Boston, Massachusetts
Visiting Surgeon
Department of Surgery, Division of Plastic and
Reconstructive Surgery
Massachusetts General Hospital and Shriners
Hospitals for Children
Boston, Massachusetts
Paul Durand, MD
Surgeon
Division of Plastic Surgery
Cleveland Clinic
Cleveland, Ohio
Alexander Facque, MD
Plastic Surgery Resident
Mount Sinai Hospital
New York, New York
Roberto L. Flores, MD
Joseph G. McCarthy Associate Professor of Reconstructive
Plastic Surgery
Director Cleft Lip and Palate
Hansjorg Wyss Department of Plastic Surgery
NYU Langone Medical Center
New York, New York
xii

Paige M. Fox, MD, PhD
Assistant Professor
Stanford University School of Medicine
Palo Alto, California
Sim on G. Frank, MD, FRCSC
Assistant Professor
Division of Plastic Surgery
University of Ottawa
Ottawa, Ontario, Canada
Noopur Gangopadhyay, MD
Assistant Professor of Plastic Surgery
Department of Plastic Surgery
The Ohio State University
Columbus, Ohio
Ingrid Ganske, MD
Instructor in Surgery
Harvard Medical School
Attending Plastic Surgeon
Boston Children’s Hospital
Boston, Massachusetts
Patrick A. Gerety, MD
Assistant Professor of Surgery
Indiana University School of Medicine
Indianapolis, Indiana
Arin K. Greene, MD, MMSc
Associate Professor of Surgery
Harvard Medical School
Attending Plastic Surgeon
Boston Children’s Hospital
Boston, Massachusetts
Aladdin H. Hassanein, MD, MMSc
Resident
Harvard Plastic Surgery
Boston, Massachusetts
Thom as A. Im ahiyerobo, MD
Assistant Professor of Surgery
Columbia University
College of Physicians and Surgeons
New York, New York
Reza Jarrahy, MD, FACS, FAAP
Associate Clinical Professor of Surgery and Pediatrics
David Geffen School of Medicine
Los Angeles, California
Tim othy W. King, MD, PhD, MSBE, FAAP, FACS
Associate Professor of Surgery
Biomedical Engineering, Director of Plastic Surgery
University of Alabama at Birmingham and Children’s of
Alabama
Birmingham, Alabama
Anand Kum ar, MD
Associate Professor of Plastic Surgery
Johns Hopkins School of Medicine
Baltimore, Maryland
Brian I. Labow, MD, FACS, FAAP
Associate Professor of Surgery
Department of Plastic and Oral Surgery
Boston Children’s Hospital
Harvard Medical School
Boston, Massachusetts
Rizal Lim , MD
Craniofacial Fellow
UCLA Division of Plastic Surgery
Los Angeles, California
Angelo B. Lipira, MD
Assistant Professor of Surgery
Division of Plastic and Reconstruction Surgery
Oregon Health and Science University
Portland, Oregon
Joseph Lopez, MD, MBA
Plastic Surgery Resident
Johns Hopkins Hospital
Baltimore, Maryland
Joseph Edward Losee, MD, FAAP, FACS
Chief
Pediatric Plastic Surgery
Children’s Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania
Steven L. Moran, MD
Division of Plastic Surgery, Department of Surgery
Mayo Clinic
Rochester, Minnesota
Kerry A. Morrison, MD
Columbia University
College of Physicians and Surgeons
New York, New York
Contributors
xiii

Ananth S. Murthy, MS, FACS
Chief Division of Plastic Surgery
Akron Children’s Hospital
Akron, Ohio
Dariush Nikkhah, BM, MSc, MRCS
Plastic Surgery Registrar
Great Ormond Street Hospital
London, United Kingdon
Laura C. Nuzzi, MS
Clinical Research Specialist
Department of Plastic and Oral Surgery
Boston Children’s Hospital
Harvard Medical School
Boston, Massachusetts
Albert K. Oh, MD
Director
Fellowship for Craniofacial and Pediatric Plastic Surgery
Associate Professor
Department of Plastic and Reconstructive Surgery and
Pediatrics
Children’s National Medical Center
George Washington University
Washington, D.C.
Kam lesh B. Patel, MD, MSc
Associate Professor of Surgery
Director of Craniofacial
St. Louis Children’s Hospital
Washington University School of Medicine
Division of Plastic and Reconstructive Surgery
St. Louis, Missouri
Carolyn M. Pike, MPH
Clinical Research Specialist
Department of Plastic Surgery
Boston Children’s Hospital
Boston, Massachusetts
Cassio Raposo-Am aral, MD, PhD
Hospital SOBRAPAR
Campinas, Brazil
Richard J. Redett
Associate Professor
Johns Hopkins Hospital
Baltimore, Maryland
Cory M. Resnick, MD, DMD
Assistant Professor of Oral and Maxillofacial Surgery
Harvard Medical School
Department of Plastic and Oral Surgery
Boston Children’s Hospital
Boston, Massachusetts
Carolyn R. Rogers-Vizena, MD
Assistant Professor of Surgery
Harvard Medical School
Attending Plastic Surgeon
Boston Children’s Hospital
Boston, Massachusetts
Gary F. Rogers, MD, JD, MBA, MPH
Chief of Plastic and Reconstructive Surgery
Children’s National Medical Center
Washington, D.C.
S. Alex Rottgers, MD
Assistant Professor
Johns Hopkins School of Medicine
Department of Plastic and Reconstructive Surgery
Johns Hopkins All Children’s Hospital
St. Petersburg, Florida
Bran Sivakum ar, MD
Consultant Hand, Plastic & Reconstructive Surgeon
Great Ormond Street Hospital for Children
London, United Kingdom
Stephen Shusterm an, MD
Dentist in Chief
Boston Children’s Hospital
Boston, Massachusetts
Gill Sm ith
Consultant Plastic and Reconstructive Surgeon
Great Ormond Street Hospital for Children
London, United Kingdom
Derek M. Steinbacher, DMD, MD, FACS
Chief of Oral and Maxillofacial Surgery
Chief of Dentistry, Director of Craniofacial Surgery
Yale University
New Haven, Connecticut
Contributors
xiv

Srinivas M. Susarla, MD
Assistant Professor
Division of Plastic Surgery
Division of Oral and Maxillofacial Surgery
Seattle Children’s Hospital
University of Washington
Seattle, Washington
Am ir H. Taghinia, MD
Assistant Professor of Surgery
Harvard Medical School
Attending Plastic Surgeon
Boston Children’s Hospital
Boston, Massachusetts
Peter J. Taub, MD, FACS, FAAP
Professor, Surgery, Pediatrics, Dentistry, and Neurosurgery
Professor, Medical Education
Division of Plastic and Reconstructive Surgery
Residency Program Director
Chief, Craniomaxillofacial Surgery
Icahn School of Medicine at Mount Sinai
Chief, Pediatric Plastic Surgery
Director, Mount Sinai Cleft and
Craniofacial Center Director, Mount Sinai Vascular
Anomalies Program
Kravis Children’s Hospital at Mount Sinai
New York, New York
Raym ond Tse, MD
Associate Professor Division of Plastic Surgery
Seattle Children’s Hospital
University of Washington
Seattle, Washington
Jesse A. Taylor, MD
Attending Surgeon
Associate Professor
University of Pennsylvania
Children’s Hospital of Philadelphia
Philadelphia, Pennsylvania
Sam i H. Tuffaha, MD
Resident
Department of Plastic and Reconstructive Surgery
Johns Hopkins School of Medicine
Baltimore, Maryland
Howard Wang, MD
Resident
Department or Plastic and Reconstructive Surgery
Johns Hopkins University School of Medicine
Baltimore, Maryland
Stephen M. Warren, MD, FACS
Associate Professor of Plastic Surgery
Associate Professor of Oral and Maxillofacial Pathology,
Radiology, and Medicine
NYU Langone Medical Center
New York, New York
Benjam in C. Wood, MD, FACS
Adjunct Associate Professor
Division of Plastic Surgery
UNC School of Medicine
Davis and Pyle Plastic Surgery
Raleigh, North Carolina
June K. Wu, MD
Assistant Professor of Surgery
Columbia University
New York, New York
Joseph Upton, MD
Professor of Surgery
Boston Children’s Hospital
Boston, Massachusetts
Robin Yang, MD, DDS
Chief Resident
Johns Hopkins Department of Plastic and Reconstructive
Surgery
Baltimore, Maryland
Akira Yam ada, MD, PhD
Professor of Plastic Surgery
World Craniofacial Foundation
Dallas, Texas
Elizabeth Zellner, MD
Plastic Surgery Resident
Yale University
New Haven, Connecticut
Contributors
xv

(Trang không có chữ)

I
Part I
Craniofacial Disorders
1 Craniosynostosis

2
2 Craniofacial Syndromes

16
3 Deformational Plagiocephaly,
Brachycephaly, and Scaphocephaly

28
4 Craniofacial Microsomia

34
5 Orbital Hypertelorism

44
6 Rare Craniofacial Clefts

51
7 Facial Fractures

63
8 Cranioplasty

73
9 Osseous Lesions of the Craniofacial
Region

81
10 Distraction Osteogenesis

99
11 Orthognathic Correction of Jaw
Deformities

112

1 Craniosynostosis
Gary F. Rogers and Stephen M. Warren
Sum m ary
Craniosynostosis is the premature fusion of one or more cranial
sutures. It can occur in isolation (non-syndromic) or in associa-
tion with a syndrome (syndromic), and can involve a single or
multiple cranial sutures. Patients with non-syndromic single
suture fusions have normal intelligence, but may display subtle
learning disabilities. Patients with a syndrom ic diagnosis and/
or multiple suture fusions tend to have variable degrees of cog-
nitive impairment. The sagittal suture is the most commonly
(40 to 55%) fused suture followed by the coronal (20 to 25%),
metopic (5 to 15%), and lambdoid (1 to 5%) sutures. This condi-
tion has two primary consequences: a characteristic change in
cranial shape and, more importantly, potential restriction of cere-
bral growth and development. The morphologic e ects of suture
fusion are related to the location and number of fused sutures,
and the age at which the fusion(s) occurred. Diagnosis is typically
made by physical examination (i.e., the shape of the head) and/
or computed tomography. The general goals of treatment are to
normalize cranial shape and intracranial volume, but other con-
siderations (e.g., respiration, ophthalmologic, facial aesthetics,
musculoskeletal) may require additional intervention. Treatment
options to address the craniosynostosis include: minimally-inva-
sive procedures (endoscopically-assisted strip craniectomy (SC),
SC+spring mediated distraction), open craniotomy procedures
(Pi, open release), cranial distraction, and open cranial remodel-
ing with osseous stabilization. Results of treatment vary accord-
ing to the presence/absence of an associated syndrome, age at
procedure, type of procedure used, duration of follow-up.
Keywords: Craniosynostosis, intracranial hypertension, syndro-
me, cranial suture
1.1 Introduction
Craniosynostosis is defined as the premature fusion of one or
more cranial sutures. This condition occurs in an estimated 1 in
2,000 to 2,500 live births, and can occur as a solitary finding
(termed nonsyndromic craniosynostosis) or in conjunction
with pathologically associated physical anomalies (syndromic).
The majority (80–95%) of a ected patients have a single fused
suture and no concurrent syndrome. Of the patients with mul-
tiple suture fusions, approximately 75% have an associated syn-
drome. The sagittal suture is the most commonly involved (40–
55%), followed by the coronal (20–25%), metopic (5–15%), and
lambdoid (1–5%) sutures. Some recent reports document a rise
in the incidence of isolated metopic fusion and place it second
behind sagittal synostosis; this finding is not universally
reported and may reflect diagnostic variability between pro-
viders and centers and not a true rise in pathoanatomy. Fusions
of other sutures (e.g., squamosal and frontosphenoidal) are
much less common.
Craniosynostosis has two primary consequences: a character-
istic change in cranial shape and, more importantly, potential
restriction of cerebral grow th and development. The morpho-
logic e ects of suture fusion are related to the location and
number of fused sutures and the age at which the fusion(s)
occurred. Most documented forms of craniosynostosis occur
prenatally, and malformation of the craniofacial skeleton is evi-
dent at birth. However, there are rare examples of abnormal
sutural fusion that occur after birth; in such instances, the
changes in cranial shape may be subtle and di cult to
diagnose.
1.2 Cranial Development,
Anatomy, and Pathoanatomy
Cranial sutures and fontanelles are the mesenchymes that per-
sist between the calvarial plates. The major cranial sutures are
the metopic, sagittal, coronal, and lambdoid sutures (Fig. 1.1).
Minor cranial sutures include the temporosquamosal, fronto-
nasal, sphenoethmoidal, and the frontosphenoidal sutures. The
cranial sutures have two primary functions: to permit cranial
deformation or molding during parturition so that the infant
can pass through the pelvis and to allow the cranium to accom-
modate accelerated brain development early in life. As the brain
grows, tension across the suture increases and stimulates bone
deposition along the edges of the calvarial plates. Thus, cranial
growth occurs in response to brain growth. Once brain growth
is completed, the cranial sutures serve little purpose and even-
tually close. Conventional wisdom suggests that the cranial
sutures close in childhood, but histologic sections suggest that
true bony fusion occurs much later.
The complex biological activity of the cranial sutures is still
being elucidated. Sommering (1800) was the first to describe
the anatomy of the cranial sutures and to propose that prema-
ture fusion of the suture could alter cranial shape. Rudolph
Virchow (1851) expanded his work and posited that cranial
suture fusion (or patency) was independent of the perisutural
environment. He further hypothesized that premature suture
fusion resulted in compensatory skull growth parallel to the
fused suture and a decrease in grow th perpendicular to the
suture (Virchow’s law; Fig. 1.2). Although Virchow’s law is the
foundation for clinical diagnosis of craniosynostosis, the under-
standing of sutural biology has changed dramatically. Beginning
with the work of various researchers, including Park and
Powers (1920), Van der Klaauw (1946), and Moss (1959), atten-
tion began to focus on the influence of the dura mater on suture
activity, patency, and closure. Numerous in vitro and in vivo
models strongly suggest that the underlying dura mater medi-
cates suture activity through temporal and spatial production
of grow th factors (e.g., fibroblast growth factor [FGF]-2) and cel-
lular elements (e.g., osteoblastic cells) to the overlying osteo-
genic fronts and suture mesenchyme.
Genetic methods have now identified more than 100 muta-
tions that are involved in the pathogenesis of craniosynostosis,
including TWIST, NELL-1, MSX-2, GLI3, and fibroblast growth
factor receptor (FGFR)-1 to -3. These are covered more exten-
sively in Chapter 2 on craniofacial syndromes. The mechanism
through which these mutations cause craniosynostosis is
still being elucidated. Craniosynostosis appears to a ect facial
Craniofacial Disorders
2

growth through a secondary cascade of growth impairment
that extends from the cranial base into the facial skeleton. Find-
ings by Mooney and others suggest that the calvarial dysmor-
phology can drive the basicranial and midface changes. The
controlling influence of genetics cannot be minimized, but epi-
genetic influences and mechanotransduction can modulate
genetic expression and patient phenotype. There are well-docu-
mented examples of individuals who possess genes associated
with certain syndromic forms of craniosynostosis (e.g., FGFR-3
Pro250Arg and TWIST) and yet lack any evidence of cranial
fusion or the phenotypic features of the underlying syndrome.
1.3 Classification
Craniosynostosis can be generally classified based on both the
number of involved sutures (single vs. multiple) and the pres-
ence or absence of an associated syndrome (nonsyndromic vs.
syndromic). In general, most patients (~85%) with single-suture
craniosynostosis have no identifiable associated syndrome
(nonsyndromic, single-suture craniosynostosis), whereas most
patients (~75%) who carry a syndromic diagnosis have fusion of
two or more sutures (syndromic, multisuture craniosynostosis).
However, it is incorrect to use the terms single-suture and
nonsyndromic or multisuture and syndromic interchangeably.
There are many examples of patients with isolated sutural
fusions who have an associated syndromic diagnosis (syn-
dromic, single-suture craniosynostosis) and patients with
multisutural fusion that have no identifiable syndrome (non-
syndromic, multisuture craniosynostosis). Approximately 25%
of patients with unilateral coronal synostosis have an associated
molecular/syndromic association: Muenke’s syndrome (FGFR-3
Pro250Arg; most common), Apert’s syndrome (FGFR-2),
Saethre–Chotzen syndrome (TWIST) and craniofrontonasal syn-
drome (EFNB1). Similarly, an estimated 28% of patients with
metopic craniosynostosis have an associated syndrome or chro-
mosomal deletion/transposition.
Although no classification system is perfect, this simple
method captures two of the most important prognostic varia-
bles of craniosynostosis—the risk of intracranial pressure (ICP)
and whether or not there is an associated syndromic diagnosis.
Elevations in ICP are directly correlated with the number of
Fig. 1.1 Cranium. (a) Vertex view. (b) Lateral view. (From THIEME Atlas of Anatomy, Head and Neuroanatomy, © Thieme 2010, illustration by Karl
Wesker.)
Fig. 1.2 Virchow’s law.
Craniosynostosis
3

fused sutures. Marchac and Renier measured the ICP in 121
patients with craniosynostosis with the help of an epidural sen-
sor. They detected elevated ICP in 42% of patients with multi-
ple-suture involvement and in 7 to 13% of patients with single-
suture involvement. They noted a decrease in ICP in patients
who underwent cranial release. Similar results have been
observed by other authors.
The presence or absence of a syndromic diagnosis greatly
a ects a patient’s overall prognosis in terms of cognitive and
functional capabilities. Most of the genes linked to the various
forms of syndromic craniosynostosis (e.g., FGFR-1 to -3) are
expressed in multiple tissues during embryogenesis, including
neural tissue. The e ect of a mutated gene during critical peri-
ods of development may, and very likely does, have a more
profound e ect on neurocognitive development than growth
restriction produced by sutural fusion later in childhood. Given
the importance of the genetic influences, it is paramount that
every child with craniosynostosis undergoes genetic evaluation
and testing for commonly associated genetic mutations.
1.4 Diagnosis
Physical examination remains the gold standard for diagnosing
craniosynostosis. Most forms of craniosynostosis involve fusion
of only a single suture and manifest as a characteristic cranial
shape at birth. There are rare forms of craniosynostosis, such as
those involving the minor cranial sutures (e.g., frontosphenoi-
dal and squamosal), multiple contiguous or noncontiguous
sutures, and latent (postnatal) fusions, that do not fall neatly
into the standard phenotypic patterns promulgated by Virchow
and are challenging to diagnose by phenotype alone. Most cra-
niofacial surgeons choose to obtain a confirmatory computed
tomographic (CT) scan in all patients, but others rely exclusively
on the clinical findings for isolated forms of single-suture cra-
niosynostosis. The primary advantage of obtaining a CT before
embarking on surgical intervention is to identify any intracra-
nial anomalies (hydrocephalus, arachnoid cysts, etc.) that may
also require treatment. In addition, some centers now use vir-
tual surgical planning algorithms that necessitate CT imaging.
The disadvantages include the possible need for a general anes-
thetic and exposure to ionizing radiation. There is evidence that
suggests that early exposure to either of these can have possible
adverse e ects, but the risks are extremely low and must be
balanced against the need for clinical information potentially
derived from the CT. It is the authors’ current practice to obtain
CT imaging on all patients, regardless of the fusion type.
1.5 Functional Aspects
1.5.1 Elevated Intracranial Pressure
The possibility of elevated ICP ranks as the most definitive and
objective reason to consider surgical intervention in a patient
with craniosynostosis. Prolonged elevated ICP can impair neu-
rocognitive function, lead to blindness, and exacerbate or
induce Arnold-Chiari malformation. As noted earlier, the risk of
this problem rises geometrically with the number of fused
sutures. The most common reason for this finding is a mis-
match in shape and volume between the cranium and the brain,
but this can be exacerbated by other conditions. Sleep apnea
resulting from midfacial retrusion can induce episodic noctur-
nal elevations in ICP secondary to the dilating e ects of hyper-
capnia on the cerebral vasculature. Another potential cause is
venous hypertension resulting from stenosis or complete clo-
sure of the sigmoid/jugular sinus complex.
It is important to recognize that although most patients
with craniosynostosis do not have elevated ICP, the absence of
reliable noninvasive methods of determining ICP (i.e., fundu-
scopic examinations, radiographic changes, and symptoms) and
impracticality/morbidity of repeat invasive monitoring make
observation a risky proposition. The gold standard for detecting
elevated ICP is direct monitoring, which involves placing a
transcranial monitor into the cerebral parenchyma or ventricles
and monitoring pressure for 12 to 24 hours. This procedure
requires an anesthetic and has some risk of intracranial bleed-
ing or cerebrospinal fluid leak. Other methods of assessing ICP
such as epidural monitoring and lumbar puncture have fewer
complications, but the accuracy of these techniques is question-
able. Intracranial pressure readings tend to fluctuate signifi-
cantly with patient position, activity, blood pressure, and sleep,
and the most meaningful results are obtained when patients
are monitored for a period of time, usually overnight. Signifi-
cant elevations (>20 mm Hg) have been considered an absolute
indication for intracranial expansion. However, interpretation
of the significance of borderline pressure elevations (15–20 mm
Hg) has been more problematic, and there is little consensus,
even among neurosurgeons.
Direct ICP monitoring is invasive and rarely used for routine
screening. Moreover, the measurement is only a snapshot in
time: a normal pressure measurement early in life does not
imply that it will remain so as the brain continues to grow. Con-
sequently, many surgeons resort to noninvasive, but less reli-
able, indicators of ICP. Conventional clinical symptoms of acute
ICP elevation, such as headache, somnolence, and dizziness, are
often lacking, even in severely a ected children. Papilledema
and subsequent optic atrophy are strongly suggestive of ele-
vated ICP but have limited sensitivity in children younger than
8 years. As optic atrophy progresses, the disk becomes pale, the
capillaries and hyperemia disappear, and significant secondary
arteriolar narrowing occurs ( Fig. 1.3). Reducing ICP can
reverse early changes, but more advanced degeneration may be
permanent. Radiographic evidence suggestive of elevated ICP
includes loss of subdural space, often with e acement of the
basal cisterns and vertex sulci, ventricular compression, and
scalloping of the cranial endocortex. This latter finding has been
termed the “copper beaten” skull and can be visualized on both
conventional radiography and CT (Fig. 1.4). It is a late finding
caused by pressure remodeling of the inner table of the skull by
the cerebrum. The correlation of this finding with elevation in
the ICP has been questioned.
1.5.2 Hydrocephalus
Hydrocephalus is an infrequent finding in patients with cranio-
synostosis. When it occurs, it is more common in patients with
Crouzon’s syndrome but can also occur in other syndromes. It is
extremely rare in patients with nonsyndromic, single-suture
fusion. Findings of hydrocephalus may include ICP elevation
and the presence of enlarged or enlarging ventricles. CT scans
Craniofacial Disorders
4

provide a reasonable noninvasive method of assessing ventricu-
lar size. Interestingly, the authors have observed cranial suture
fusion following rapid decompression of hydrocephalus. This
postnatal iatrogenic form of craniosynostosis is rare but has
been reported.
1.5.3 Mental Impairment
Children with craniosynostosis can exhibit neurocognitive
delay and/or learning disabilities. Risk factors include the pres-
ence of an associated syndrome or genetic mutation, concurrent
ICP elevation, hydrocephalus, prematurity, and family history.
Some authorities point to the deleterious e ects of early cere-
bral grow th restriction as the primary cause. However, several
large investigations have failed to demonstrate that cranial
remodeling or volume expansion significantly alters neurocog-
nitive parameters. It is also likely, especially in those with a syn-
dromic diagnosis, that the underlying genetic process that
initiated premature sutural fusion also adversely impacted the
development of the central nervous system. Patients with sin-
gle-suture fusion and no associated syndrom e generally have
near normal intelligence but may exhibit subtle learning dis-
abilities or delayed speech acquisition. In contrast, patients
with an associated syndrome have a significantly higher inci-
dence of cognitive delay than in the general population. The
degree of cognitive impairment is loosely correlated with the
type of syndromic diagnosis, but there is wide variability.
1.5.4 Visual Abnormalities
Ocular anomalies are surprisingly common in patients with cra-
niosynostosis. Hypertelorism, exorbitism, strabismus, and
proptosis are observed in many syndromic forms of bilateral
coronal craniosynostosis, especially in those with significant
midface hypoplasia. These findings are secondary to decreased
orbital depth and widening of the ethmoidal air cells and can
lead to corneal exposure and ulceration. Hypotelorism and stra-
bismus can be associated with metopic synostosis. Patients with
unilateral coronal synostosis have elevation of the lesser and
greater sphenoid wings on the side of the fuse suture (harlequin
deformity) that results in strabismus and ocular torticollis
(head tilt to unfused side) in nearly 80% of a ected patients. In
addition, the contralateral orbital roof is depressed and 55% of
patients have astigmatism. Patients with Saethre–Chotzen syn-
drome (TWIST mutation) demonstrate upper eyelid ptosis.
Many of these manifestations are disfiguring and some can
threaten vision. Patients with strabismus or nonconjugate gaze
can develop decreased vision (disuse amblyopia) if the visual
axis disturbance is not corrected. Strabismus and amblyopia
can occurs in up to 40% of patients with syndrom ic craniosy-
nostosis, but these findings are less common in nonsyndromic
Fig. 1.4 Endocortical erosions. (a) CT findings. (b) Intraoperative view
of the frontal bone with endocortical scalloping.
Fig. 1.3 Optic disc. (a) Normal. (b) Papilledema with
blurring of the disc edges.
Craniosynostosis
5

patients. Patching of one eye and operative balancing of the
extraocular muscles are the mainstays of treatment.
1.6 Treatment
1.6.1 Team Approach
Management of craniosynostosis can be complex and is best
accomplished with coordinated, interdisciplinary care. This is
the standard approach to care in most craniofacial centers, and
the team comprises professionals from the following disci-
plines: anesthesiology, craniofacial surgery, genetics, hand sur-
gery, intensive care, neurosurgery, nursing, ophthalmology,
orthodontics, pediatrics, pediatric dentistry, prosthodontics,
psychology, radiology, social work, and speech/language path-
ology. Given the number of specialists involved in a comprehen-
sive craniofacial program, organizing and maintaining an
experienced and well-coordinated team is challenging, espe-
cially given the financial pressures of “health care reform.”
Moreover, reimbursement issues are progressively limiting
access to certain specialists, diagnostic tests, and treatment
options. However, such a comprehensive approach to care is
one of the most critical elements in achieving the best overall
outcome for the patient.
1.6.2 Timing of Surgical Intervention
The optimal timing for surgical treatment of craniosynostosis
is debatable. One approach is to operate as soon as possible,
in order to halt further progression of secondary craniofacial
changes, allow normal brain expansion, and capitalize on the
ameliorating e ects of brain grow th on overall skull shape.
There is a higher likelihood that a young infant will spontane-
ously ossify any bone defects created during the operation.
Moreover, some recent investigations suggest that early correc-
tion yields a better cognitive outcome compared with later
surgery. However, there is a higher risk of anesthetic-related
complications in infants younger than 1 year, and some authors
have observed a greater need for revision in patients under-
going open remodeling procedures before 6 months of age.
Anesthetic-induced neural apoptosis, or cellular death, is also a
concern in very young infants who undergo large intracranial
procedures. Such factors support deferring larger procedures
until the infant is older, usually 9 to 12 months of age. Each of
these considerations should be weighed in light of the type of
procedure to be performed and the risks of delaying treatment.
1.6.3 Type of Procedure
There is considerable variation in treatment of craniosynostosis
from one center to another. Operative alternatives in order of
increasing invasiveness include endoscopic-assisted extended
strip craniectomy with postoperative cranial orthosis (endo-
scopically assisted suturectomy with helmet therapy [EAS+
HT]), suturectomy with spring mediated distraction, cranial
osteotomies with internal screw distraction devices, and open
partial or total cranial vault remodeling. The choice of treat-
ment depends on many factors, including, but not limited to,
the patient’s age, the location and number of sutures fused, the
presence of an associated syndrom e, severity of pathology, and
surgeon/center experience.
Minimally invasive techniques o er less morbidity than
larger open procedures but are generally used only in younger
patients. These methods, which include EAS+HT and spring-
mediated distraction, require very small skin incision(s), and
the limited dissection can be facilitated by using an endoscope.
The fused suture is removed along with strip of the adjacent
bone, the width of which can vary from one to several centi-
meters (Fig. 1.5). Although some authors advocate removing a
wide segment of bone, there is no clear evidence that this strat-
egy improves outcomes. Moreover, the risk of a persistent bone
defect is higher than with more limited resections. The addition
of lateral barrel staves has also been touted as advantageous,
but there is again no evidence to suggest the superiority of
this approach. Suturectomy is typically accompanied by post-
operative helmet orthotic to guide the cranial expansion or
intraoperative springs placed between the bone edges to facili-
tate expansion of the craniectomy gap. Although some authors
question the necessity of these adjuncts, it is the authors’ opin-
ion that suturectomy without some adjuvant treatment method
yields a suboptimal outcome. EAS+HT relies solely on rapid
brain expansion to improve cranial shape, and, consequently,
this technique is best limited to very young infants (usually <4
month of age). The orthotic is worn for 4 to 6 months, and
usually two or more helmets are required to complete the
treatment. In contrast, spring-mediated distraction does not
depend on brain growth and has a wider window of e ective-
ness, up to 8 months, and can allow more expansion of the
bone ( Fig. 1.6). A second minor procedure is required
to remove the spring. Both approaches have minor blood loss
(50–100 mL), short hospitalization (0–1 days), and very low
Fig. 1.5 Endoscopically assisted suturectomy with helmet therapy;
minimally invasive removal of the sagittal suture.
Craniofacial Disorders
6

transfusion rates. The safety and e ectiveness of these techni-
ques are excellent for most types of single-suture and bilateral
coronal craniosynostosis, but they should be used with caution
in patients with complex multisuture fusions.
Distraction of the cranium is a newer technique that has
shown promise for certain types of craniosynostosis. Distrac-
tion has now been applied to virtually every form of craniosy-
nostosis, though more commonly in the posterior cranium in
patients with bilateral coronal synostosis (early decompression)
and to perform monoblock advancement (concurrent midfacial
and frontal advancement). It can be used theoretically in
patients of all ages and allows large osseous movements that
would be di cult, if not impossible, to achieve with the mini-
mally invasive or even open cranial remodeling procedures.
Because this is a gradual process, ossification of the bone gaps
is quite good. The procedure does require an open dissection to
perform the craniotomy and place the distractors and a second
procedure to remove the device. Moreover, a recent meta-anal-
ysis, including 11 studies of posterior cranial vault distraction,
found that this technique had complication rates between 12
and 100% (average 30%), much higher than most other techni-
ques used to correct craniosynostosis; these complications
included cerebrospinal fluid leak, infection, exposure of the
implants, and implant failure.
Open cranial remodeling techniques remain the gold stand-
ard in most craniofacial centers throughout the world. Promul-
gated by Tessier, these procedures require an open approach,
typically using a coronal incision, and removal of various cranial
bone segments. The bone is then manually remodeled and/or
rearranged, repositioned, and stabilized. Most surgeons use
micro- or miniplates and screws to secure the advanced bone
segments. Early plating systems were made of titanium, but
these plates and screws were noted to “migrate” intracranially
when used in infants. Although no harmful e ects were
reported, most surgeons use resorbable plate fixation in young
children (<2 years of age) when it is feasible. All open proce-
dures have more blood loss (200–400 mL), longer operative
times (2–5 hours), and longer periods of hospitalization than
their minimally invasive counterparts. As noted earlier, some
surgeons defer operative intervention until the infant is closer
to 1 year of age to reduce potential risks. However, open cranial
remodeling is very safe and e ective if done properly and in
centers with an experienced support team.
1.7 Perioperative Considerations
There are two primary goals in operative management of cra-
niosynostosis: to obtain the best possible anatomic outcome (i.
e., su cient intracranial volume and improve/normalize cranial
shape) and patient safety. Consequently, operative treatment of
craniosynostosis should only be done by experienced craniofa-
cial teams in higher-volume centers. Inexperienced surgical
and/or anesthetic teams not only risk producing a suboptimal
anatomic correction (and a higher rate of reoperation) but also
elevate the likelihood of an adverse event. This is especially true
in syndromic patients or those with comorbid conditions.
Excessive blood loss and inadequate resuscitation are the
principal causes of serious morbidity and death in open cranial
vault surgery and mandates careful attention. The anesthesia
team must constantly assess the blood loss (calculated) and
administer blood products and intravenous (IV) fluids well
before the patient experiences significant physiologic manifes-
tations. Attempt to “catch-up” from inadequate resuscitation is
not advised and puts the patient in significant peril. Larger
open procedures usually necessitate placement of an arterial
line, at least two peripheral IV lines (in case one fails during the
procedure), and a Foley catheter; some also place a central line,
although we have not found this necessary in most patients.
Most experienced centers employ strategies to reduce blood
loss, including meticulous surgical technique, application of
bone wax to bleeding bone edges, and pharmacologic modal-
ities such as tranexamic acid (TXA); TXA has been shown to sig-
nificantly reduce blood loss in craniofacial procedures. Various
blood salvage techniques have also been advocated, although
they only reduce allogeneic transfusion risk and do not mitigate
the risk of coagulopathy and hemodynamic instability associ-
ated with the blood loss.
Precordial Doppler monitoring can help identify air embolism
before the onset of a hemodynamic emergency. Air embolus is
most likely to occur when the patient is inadequately resusci-
tated and when bone is being cut or removed. If there is suspi-
cion of air embolus, the operative site should be covered with a
wet towel (or the scalp redraped) and the head of the bed
should be dropped below the level of the heart until the threat
has dissipated. Lastly, the use of perioperative IV steroids has
been shown to dramatically reduce swelling, pain, and hospital-
ization; dexamethasone at a dose of 3.0 mg/kg before incision
and then every 8 hours tapered over 3 days works very
e ectively.
1.8 Clinical Findings and
Management of Specific Types of
Craniosynostosis
1.8.1 Sagittal Synostosis
The sagittal suture is the most likely to fuse prematurely and
comprises 40 to 55% of all forms of craniosynostosis. The male-
Fig. 1.6 Spring-mediated distraction; spring insertion for sagittal
synostosis. (Image courtesy of Lisa David, MD.)
Craniosynostosis
7

to-female incidence ratio is 4:1. Isolated sagittal synostosis is
rarely associated with a syndrome or genetic mutation, but
familial examples have been reported. The characteristic phe-
notype consists of an elongated anteroposterior dimension and
a decrease in biparietal width ( Fig. 1.7). There is often a ridge
over the fused sagittal suture and, occasionally, a prominence
over the anterior fontanelle. The long, thin head shape is
termed scaphocephaly, or “boat-like.” Head circumference is
typically larger than norm al.
Management varies widely among institutions, but the
authors prefer minimally invasive options (EAS+HT and spring-
mediated distraction) in infants aged 5 months or younger.
These techniques provide excellent, lasting results with mini-
mal morbidity ( Fig. 1.8). Distraction is a recent addition to the
surgical armamentarium and has its advocates. It is technically
similar to springs but the distractors are higher profile and
protrude through the skin. Reported complications are higher
with this method, and there are no real advantages over other
minimally invasive techniques. Many neurosurgeons still per-
form the Pi procedure (named after its semblance to the Greek
letter π) in a ected infants who are younger than 6 months.
This open operation is midway between a remodeling and a
suturectomy. It involves excision of bony segments on either
side of the sagittal suture (which comprises the vertical limbs
of the π) and a transverse segment of bone parallel to the coro-
nal suture (which comprises the horizontal limb of the π) from
squamosal suture to squamosal suture. Barrel stave osteotomies
can be added as necessary to allow temporal/parietal out-frac-
turing. The anteroposterior dimension of the cranium can be
reduced by advancing the sagittal strip to the frontal bone and
securing it with suture or resorbable plates. Aggressive shorting
can compress the brain and is not recommended.
Fig. 1.7 Sagittal synostosis. (a) Lateral CT image showing cranial elongation. (b) Apical photograph of an affected patient.
Fig. 1.8 Laser scan images demonstrating cor-
rection of sagittal synostosis by using EAS+ HT.
Craniofacial Disorders
8

Conventional management of patients older than 6 months is
subtotal or total calvarial remodeling. In an older child, the
degree of anteroposterior shortening that is safe is considerably
less than that in a younger infant. Total vault remodeling for
sagittal synostosis requires exposure from the glabella anteri-
orly to the posterior cranial base. This can be achieved by using
a modified prone position, but supine positioning on a cerebel-
lar head holder provides excellent access, allows better blend-
ing of the anterior and posterior repair, and is less risky
(Fig. 1.9). The supine position for correction of sagittal synos-
tosis requires some head manipulation to access the posterior
cranium, and it is wise to secure the endotracheal tube to the
mandible or dentition before prepping. An awl can be used to
pass a 26-guage wire around the mandible; for patients with
mature dentition, the wire can be a xed to the teeth. The pari-
etal segments are removed and particulate bone is harvested
from the endocortex and stored. The bones are remodeled with
the goal of increasing the lateral convexity; this can be achieved
with radiating cuts of increasing width peripherally. The edges
are a xed with resorbable plates on the endocortical side.
Low temporal and parietal regions’ barrel stave osteotomies are
performed, and the segments are out-fractured. This greatly
expands the parietal width and provides a more complete
release. The cone-shaped occiput and frontal region can be
removed or, in milder cases, remodeled in situ with radial
osteotomies and out-fracturing to lessen the convexity. Short-
ening of the anteroposterior length is not always required, but
if needed, this can be accomplished by removing either the
frontal or occipital bone, contouring, and replacing. We rarely
reduce the AP dimension, especially in the fontal region, as this
can compress the brain and may not be required. At least one
study has demonstrated that frontal bossing in patients with
sagittal synostosis improves with age. Once the bone fragments
are remodeled satisfactorily, they are secured with absorbable
plates. The parietal plates should be a xed to the temporal
bone, to the intact midline sagittal strip (in an out-fractured
position), and to the expanded edges of the frontal and occipital
regions. Plate stabilization ensures that the expansion and
shape correction achieved intraoperatively will not relapse or
collapse postoperatively (Fig. 1.10).
1.8.2 Metopic Synostosis
The metopic suture is the first cranial suture to fuse and the
only one to fuse in childhood. It begins fusing at as early as 3
months of age and is complete in nearly all patients by 6 to 8
months of age. Unlike other cranial sutures, radiographic evi-
dence of a fused metopic suture in infancy or early childhood is
not per se abnormal. Instead, it is the phenotype (i.e., the extent
of forehead and superior orbital narrowing) that defines
whether a radiographically closed metopic suture is considered
craniosynostosis (premature and abnormal fusion) or repre-
sents normal physiologic closure. There is wide variation in
the degree of forehead deformity, and the line between normal
variation and “abnormal” forehead contour is poorly defined.
As a consequence, there can be significant diagnostic inconsis-
tency between centers and surgeons. On the more severe end
of the spectrum, premature closure of the metopic suture
results in a “keel”-shaped deformity termed trigonocephaly
(Fig. 1.11). Other findings include small, flat frontal bones;
anterior displacement of the coronal sutures; and compensa-
tory enlargement of the parietal elements. The triangular cra-
nial shape is exaggerated by the lack of lateral projection of the
supraorbital rims and narrowing of the temporal regions.
Patients often have hypotelorism, strabismus, and upslanting
palpebral fissures (this is sometimes referred to as the trigono-
cephalic “sequence”).
Operative management of infants younger than 4 months
includes EAS+HT. In slightly older infants (4–7 months of age),
suturectomy and spring-mediated distraction provide excellent
correction. Spring-mediated distraction has been shown to cor-
rect associated hypotelorism. Some centers have started using
craniofacial distraction to manage this condition, although the
outcomes of this are still unproven. Most craniofacial centers
manage trigonocephaly with open fronto-orbital advancement.
This method has predictably good outcomes and, unlike the
aforementioned techniques, can be used in older infants and
children. With the patient in the supine position, the frontal
bones and orbital bandeau are removed. The V-shaped bandeau
is expanded and, if necessary, the flat lateral segments are con-
toured to increase the convexity. In severe cases, the expanded
bandeau may require a midline separation and leveling of each
half. If this creates a gap, it can be filled with a trapezoidal or
triangular bone graft. The nasal process of each frontal bone is
long and should be shortened. The bandeau is intentionally
overcorrected in the temporal areas and fixed with resorbable
plates. The coronal gap can be filled with a rectangular piece of
bone harvested from the vertex to stabilize the bandeau, pro-
vide bony continuity, and prevent any possibility of collapse.
While the frontal elements are o , particulate bone graft can be
harvested from the inner table and stored in a blood-filled con-
tainer on the back table. This will provide bone graft to repair
Fig. 1.9 Operative exposure of the entire cranium in the supine
position.
Craniosynostosis
9

any defects created by the advancement or harvest of full-thick-
ness bone graft. Each frontal bone is then remodeled with a
shaping burr and/or radial osteotomies and then orthotopically
or heterotopically a xed to the bandeau. The frontoparietal
segments can be a xed to the bandeau with resorbable plates
or secured with wires or sutures. To create a smooth transition
with the widened frontal segments, the parietal bones should
be laterally out-fractured by using horizontal barrel staves
and stabilized to the frontal elements with absorbable plates.
Although the lateral bone gaps between the frontal and parietal
segments could be left to heal spontaneously, repair with full-
thickness cortical bone harvested from the vertex provides
bone continuity and reduces the likelihood of a depression
(temporal hollow) in this area. Any bony gaps on the vertex can
be filled with particulate graft stabilized with fibrin glue. The
temporalis muscle should be advanced anteriorly and resus-
pended ( Fig. 1.12). If the soft tissue closure is tight, the galea
can be scored to reduce tension on the repair. This should not
induce alopecia if done properly—the scoring must not enter
the fat layer where the hair follicles reside.
1.8.3 Unilateral Coronal Synostosis
Premature fusion of one coronal suture occurs in approximately
1 in 10,000 live births. This fusion results in shortening of the
anterior cranial fossa; angulation of the cranial base, with short-
ening of the lateral cranium on the side ipsilateral to the fusion;
and elevation of the greater and lesser sphenoid wings on the
Fig. 1.10 Postoperative CT after correction of sagittal synostosis. Each parietal segment was contoured, affixed to the out-fractured temporal bone,
and stabilized in a more lateral position. There is a smooth transition between the contoured regions, and all osseous defects are filled with particulate
bone graft.
Fig. 1.11 CT image demonstrating trigonocephaly.
Craniofacial Disorders
10

fused side leads to the characteristic “harlequin” orbit seen on a
plain radiograph. There is a compensatory bulge in the ipsilat-
eral squamous portion of the temporal bone, contralateral fron-
tal and parietal bones, and, to a much lesser degree, the
contralateral occipital bone. The fused coronal suture may dem-
onstrate prominent ridging, and the ipsilateral frontal bone is
flat. There is facial asymmetry and angulation that is pathogno-
monic (Fig. 1.13). Specific findings are shortening of the ipsi-
lateral palpebral fissure, superior and posterior displacement of
the upper orbital rim and eyebrow, anterior displacement of the
malar eminence, and deviation of the nasal root toward the flat
frontal bone. The chin point deviates to the contralateral side. As
noted earlier, the orbital changes cause ocular torticollis in
approximately 80% of patients and more than half of patients
have astigmatism in the eye on the unfused side. Twenty-five
percent of patients have an associated molecular/syndromic
diagnosis, the most common being FGFR-3 Pro250Arg (Muenke’s
syndrome), followed by FGFR-2, TWIST (Saethre–Chotzen syn-
drome), and EFNB1 (craniofrontonasal malformation).
Treatment alternatives include endoscopic suturectomy and
postoperative helmet therapy as well as spring-mediated dis-
traction for early correction of unilateral coronal synostosis.
One study found a lower incidence of ocular torticollis and
astigmatism in patients undergoing early endoscopic suturec-
tomy compared with those who had later fronto-orbital
advancement. In addition, early intervention may lead to better
overall facial symmetry. Most centers still treat coronal cranio-
synostosis by using conventional fronto-orbital advancement.
After removal of the frontal bones and bandeau, each is remod-
eled. The frontal bone is remodeled by using radial osteotomies,
and/or selective fractures are performed to achieve the desired
form. The bandeau is contoured to increase convexity of the
flattened side. A resorbable plate placed on the endocortical
surface is excellent for maintaining the bandeau shape. There is
a tendency for the correction to relapse, so many surgeons
advocate recontouring and sagittal overcorrection of the ban-
deau and frontal bone on the side of the fusion. Some authors
have recommended using an onlay bone graft over the orbital
rim on the ipsilateral side to help accentuate the sagittal projec-
tion, but it is the authors’ experience that onlay grafts resorb.
The bandeau is repositioned with ipsilateral over-advancement
and a xed to each temporal fossa with resorbable plates. A
full-thickness rectangular bone graft behind the bandeau will
help prevent postoperative collapse and ensure bony healing.
The frontal bone plates are reattached to the orbital bandeau
with sutures or resorbable plates. The frontal bones should be
attached to the parietal segments with absorbable plates to pre-
vent collapse during redraping of the coronal flaps. Full-thick-
ness bone grafts harvested from the vertex can be used to fill
the lateral coronal gap, especially on the more advanced side.
Particulate cranial bone graft harvested from the endocortex of
the frontal elements, or ectocortex of the parietal bones, can
Fig. 1.12 Operative correction of trigonocephaly. (a) Preoperative vertex view. (b) Intraoperative vertex view. (c) Intraoperative submental vertex after
frontal remodeling and parietal expansion. (d) Postoperative submental vertex view.
Craniosynostosis
11

easily cover all remaining bone defects. The asymmetry of the
palpebral fissure can be corrected with a lateral canthopexy on
the side of the fusion ( Fig. 1.14).
1.8.4 Lambdoid Synostosis
Lambdoid synostosis is the least common form of craniosynos-
tosis (1–5%) and is characterized by occipital flattening, mastoid
bossing, and posterior/inferior displacement of the ear on the
side of the fusion. In addition, there is decreased height of the
cranial vertex on the a ected side. CT scan demonstrates bony
bridging of the lambdoid suture and angulation of the posterior
cranial fossa toward the side of the fusion ( Fig. 1.15). The
decision to recommend an operative repair for unilateral lamb-
doid synostosis depends on the severity of the deformity.
The treatment varies depending on whether the condition is
unilateral or bilateral and on the age at presentation. Minimally
invasive alternatives are excellent for this condition in young
infants (<7 months of age). Distraction has been advocated by
some and appears to provide excellent expansion of the occi-
put. This technique can be used in children who present at an
older age. Most centers still use open remodeling, especially in
older children. Positioning is prone, so that the occipital bone
can be fully visualized to the level of the foramen magnum. A
bilateral parietooccipital bone segment is elevated, or each pari-
eto-occipital bone graft can be elevated, leaving a strip of bone
over the sagittal suture. Barrel stave osteotomies are performed
bilaterally in the flattened basal occipital bone to increase the
Fig. 1.13 CT image demonstrating unilateral coronal synostosis.
Fig. 1.14 Operative correction of right unilateral coronal synostosis. (a) Preoperative submental vertex view. (b) Intraoperative oblique showing
correction after fronto-orbital remodeling. (c) Intraoperative apical view of correction. (d) Postoperative submental vertex view.
Craniofacial Disorders
12

convex projection of the occipital bone locally. The bone grafts
may be orthotopically or heterotopically (switched) reposi-
tioned and secured with resorbable plates.
1.8.5 Bilateral Coronal Synostosis
Most patients (~75%) with bilateral coronal synostosis have
an associated syndromic diagnosis, the most common being
Crouzon’s syndrome (FGFR-2), Muenke’s syndrome (FGFR-3
Pro250Arg), Apert’s syndrome (FGFR-2), Saethre–Chotzen syn-
drome (TWIST), Pfei er’s syndrome (FGFR-1 or FGFR-2), and
craniofrontonasal syndrome (EFNB1). Thus, most infants with
bilateral coronal synostosis should be presumed to have a
syndromic diagnosis and should undergo genetic testing. In
many instances, the syndromic diagnosis is easily ascertained by
the constellation of associated physical findings. For example,
Apert’s syndrome is easily identified by the presence of complex
syndactyly of the hands and feet and Pfei er’s syndrome
is identified by unusually wide thumbs and great toes. Some
syndromes have subtle findings and require molecular testing to
secure the diagnosis. The craniofacial phenotype depends on the
syndromic diagnosis but includes retrusion of the midface and
the superior orbital rim and turribrachycephaly (Fig. 1.16).
Operative treatment of bilateral coronal synostosis has
changed over the last decade. Traditionally, patients were man-
aged with fronto-orbital advancement, often at 9 to 12 months
of age. This is done similar to the fronto-orbital procedures
described previously for metopic synostosis, except that the
parietal bones typically do not require repositioning. One prob-
lem with this approach was that the combination of anterior
synostosis and posterior deformational flattening from lying
supine in the first 4 to 6 months of life often led to severe com-
pensational turribrachycephaly that was di cult to reverse
with an isolated anterior procedure. Recent studies have begun
to emphasize on early posterior expansion, often using
distraction, and a later-staged anterior procedure to improve
frontal shape. Advocates suggest that this approach provides
the neurocognitive benefits of early decompression, avoids the
development of compensational turribrachycephaly, and per-
mits a later anterior reconstruction (presumably less relapse).
The disadvantage of this algorithm is that it requires three pro-
cedures early in life: a relatively large procedure to create the
posterior osteotomies and place the distractors, another minor
procedure to remove the distractors, and the frontal procedure
at some time in the future. The procedure also results in closure
of the normal lambdoid sutures; the e ect of this is unknown.
Minimally invasive procedures have also been used to provide
early decompression, and these methods can similarly avoid the
development of turribrachycephaly. Critics point out that dis-
traction provides a greater degree of expansion; however, there
are no data that quantify the extent of expansion required to
adequately decompress the cerebrum and o set secondary cra-
nial changes.
Midfacial retrusion is a com m on feature in alm ost all
patients with bilateral coronal synostosis and often requires
operative intervention at som e point during developm ent
to improve facial aesthetics and treat obstructive sleep
apnea, a com m on finding in this patient population. The
severity of m idfacial retrusion varies w ith the associated
syndrom e: m ost severe in infants w ith Apert’s and Pfei er’s
syndrom es, m oderate in patients w ith Crouzon’s syndrom e,
and very m ild in patients w ith Muenke’s and Saethre–Chot-
zen syndrom es. The tim ing of m idfacial advancem ent is,
consequently, largely determ ined by the type of associated
syndrom e.
1.8.6 Unusual Craniosynostosis Variants
Although the majority of patient with craniosynostosis fall
within one of the categories listed earlier, there are many
Fig. 1.15 Left lambdoid synostosis. (a) Clinical appearance. (b) CT image demonstrating fusion of left lambdoid suture.
Craniosynostosis
13

unusual and rare variations that are worth examining. Most of
these create such an unusual cranial shape that they are noticed
by even most inexperienced clinician, but unfortunately, defini-
tive diagnosis can be delayed by the presumption that the
shape is a product of cephalic m olding from the birthing
process. For example, the com bination of m etopic and uni-
lateral coronal synostoses yields a phenotype that is hard to
dism iss as normal ( Fig. 1.17). There are sutural fusions
that lead to esoteric change in cranial and facial shape and
can be easily dismissed. Examples include isolated frontos-
phenoidal synostosis, which is phenotypically reminiscent of
deform ational plagiocephaly, and progressive postnatal pan-
synostosis (PPP; Fig. 1.18). Patients w ith the latter condi-
tion fuse all of their sutures sometim e after birth and
present later in childhood with a norm al-appearing cranial
shape, declining percentile head circum ference, and elevated
ICPs. Because the cranial shape is norm al, the diagnosis is
often delayed.
Given the rarity of these unusual forms of craniosynostosis,
treatment must be tailored to the individual child. Operative
treatment of these infants present a challenge to even the most
experienced craniofacial surgeons, but the goals of treatment
for these unusual forms of craniosynostosis are the same as
those for all other types of craniosynostosis—optimize neuro-
cognitive development and craniofacial aesthetics. Fortunately,
the techniques used for more common types of fusions
(described previously), in combination with the ingenuity and
creativity of the craniofacial surgeon, are more than adequate
to restore volume and shape in even the most severely a ected
patient.
Fig. 1.16 CT images of bilateral coronal synostosis. (a) Anteroposterior view. (b) Lateral view.
Fig. 1.17 CT image of combined right unilateral coronal and metopic
synostosis.
Craniofacial Disorders
14

1.9 Complications
Complications are relatively infrequent and may be divided into
those that are acute and those that are late. Acute complications
include major blood loss, air embolus, dural tear with cerebro-
spinal fluid (CSF) leak, infection, and respiratory complications.
Blood loss occurs continuously during open cranial vault
procedures but is most substantial during completion of
the osteotomies. Bleeding is the direct or indirect cause of
most complications. Consequently, attention to accurate blood
replacement is paramount to avoid coagulopathy secondary to
dilution of clotting agents. It is critical to have su cient IV
access to allow rapid resuscitation. Blood loss may continue for
12 to 24 hours following large cranial remodeling procedures,
and intensive care unit monitoring is usually warranted. Air
embolus has been documented in children undergoing cranial
procedures and may occur in any operative position, including
supine. The placement of precordial Doppler monitors and end-
tidal CO2 monitors to ascertain entrainment of air into the
venous system is recommended. Central venous lines are some-
times warranted to assess blood volume (and resuscitation) and
can be helpful to evacuate an air embolus if it occurs.
Dural tears are not uncommon and should be identified
and repaired. An unrepaired or incompletely repaired dural tear
can result in a persistent CSF leak into the drain (if one is used)
or an unresolved fluid collection under the closed coronal
flaps. Persistent CSF leak can lead to infection, thinning of the
overlying bone, and a cranial defect. Infection is an uncommon
problem after cranial procedures but can be potentially life-
threatening. Infection can arise from a persistent CSF leak or a
communication of the intracranial cavity with the nasal cavity
or frontal sinus. Because the frontal sinus develops quite late in
childhood, the latter is seen as a consequence of surgery in
older children.
Late complications include incomplete bone healing,
impaired bone growth, relapse, and recrudescence of the origi-
nal cranial deformity. Several studies have reported a negative
correlation between age at repair and recurrence. The degree of
relapse may also depend on the severity of the initial pheno-
type as well as the continued e ect of cranial base restriction.
Other important factors may be incomplete correction and
inadequate bone stabilization. Overall, the morbidity and mor-
tality resulting from the treatment of craniosynostosis are quite
low. Mortality has been variously reported to range between
1.5 and 2%. Current advances in monitoring and anesthetic
techniques, as well as refinements in surgical techniques, have
driven this rate well below 1% at most large centers.
Suggested Readings
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gene and chromosomal disorders in craniosynostosis. Pediatrics. 2010; 126
(2):e391–e400
McCarthy JG, Warren SM, Bernstein J, et al. Craniosynostosis Working Group.
Parameters of care for craniosynostosis. Cleft Palate Craniofac J. 2012; 49
(Suppl):1S–24S
David LR, Plikaitis CM, Couture D, Glazier SS, Argenta LC. Outcome analysis of
our first 75 spring-assisted surgeries for scaphocephaly. J Craniofac Surg.
2010; 21(1):3–9
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rates in craniofacial surgery: an analysis of 8101 major procedures. Plast
Reconstr Surg. 2010; 126(1):181–186
Starr JR, Kapp-Simon KA, Cloonan YK, et al. Presurgical and postsurgical
assessment of the neurodevelopment of infants with single-suture craniosy-
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Fig. 1.18 CT image of a 2-year-old child with progressive postnatal
pansynostosis. Note absence of any suture definition and surface
irregularities suggestive of bone thinning.
Craniosynostosis
15

2 Craniofacial Syndromes
Kerry A. Morrison, Thomas A. Imahiyerobo, and June K. Wu
Sum m ary
The diagnosis and management of syndromic craniofacial
anomalies, namely Apert, Crouzon, Muenke, Pfei er, Saethre-
Chotzen, and Treacher Collins syndromes, are complex due to
the wide phenotypic variability of the clinical presentations.
Craniofacial syndromes can be divided into two major catego-
ries: craniosynostosis-associated syndromes and cleft-associ-
ated syndromes. Common syndromic craniosynostosis include
Apert, Crouzon, Muenke, Pfei er, and Saethre-Chotzen, while
Treacher Collins is the most common cleft-associated mandibu-
lofacial dysostosis condition. Management of patients with
craniofacial syndromes includes correctly timed surgical opera-
tions in a staged fashion, close involvement of the patients’ fam-
ilies, as well as psychosocial and aesthetic considerations for
the pediatric patients. A multidisciplinary team approach is
vital to a successful outcome, and the involvement of a pediatric
plastic surgeon in the surgical management of these complex
craniofacial syndromes is central.
Keywords: Craniofacial syndromes, congenital disorders, genetic
mutations, Apert syndrome, Crouzon syndrome, Muenke syn-
drome, Pfei er syndrome, Saethre-Chotzen syndrome, Treacher
Collins syndrome
2.1 Introduction
Craniofacial syndromes can be divided into two broad catego-
ries: craniosynostosis-associated syndromes and cleft-associated
syndromes. The clinical diagnosis and surgical management of
craniofacial syndromes, such as Apert’s, Crouzon’s, Muenke’s,
Pfei er’s, Saethre–Chotzen, and Treacher Collins syndromes, are
complex due to the overlapping and varied phenotypic presenta-
tions and genetic mutations of the di erent syndromes. For
example, all craniosynostosis syndromes have abnormal, prema-
ture fusion of one or more cranial sutures. However, some
syndromes, such as Apert’s and Pfei er’s syndromes, have prom-
inent midface extrusion, whereas the midface position is less
severely a ected in other conditions, such as Muenke’s and
Saethre–Chotzen syndromes. Thus, correct diagnosis and treat-
ment for these conditions require a multidisciplinary team
approach. Surgical and nonsurgical management needs to be
tailored based not only on the genetic and clinical diagnosis but
also on the severity of symptoms and functional compromise
experienced by the patient. Optimal treatment quite often
necessitates multiple surgical disciplines, with the involvement
of a pediatric plastic surgeon being essential for a successful
outcome.
Craniosynostosis results from the premature fusion of one
or more cranial sutures and is a relatively common congenital
defect, a ecting 1 in every 2,000 births globally. Premature
fusion restricts the grow th of the skull perpendicular to the
suture involved; consequently, compensatory skull growth
occurs parallel to the a ected suture, in order to accommodate
the growing brain (Fig. 2.1). Craniosynostosis usually occurs
as an isolated condition but can also result from a detectable
genetic mutation. Apert’s, Crouzon’s, Muenke’s, Pfei er’s, and
Saethre–Chotzen syndromes are unique for their designation as
syndromic craniosynostoses and are collectively the most com-
mon syndromic craniosynostoses. More than 100 syndromes
have been described and attributed to specific genetic muta-
tions, notably fibroblast growth factor receptor-1 (FGFR-1),
FGFR-2, and FGFR-3, and the transcription factors TWIST
(upstream regulator of FGFRs) and MSX-2. Specifically, gain-of-
Fig. 2.1 Schematic of craniosynostosis deforming
forces.
Craniofacial Disorders
16

function mutations are associated with the FGFR genes and
human MSX-2, whereas loss-of-function mutations are associ-
ated with the TWIST gene. Mutations in FGFR-2 gene are the
most prevalent cause for three notable, overlapping syndromes:
Apert’s, Crouzon’s, and Pfei er’s syndromes ( Table 2.1).
Surgical intervention remains the only treatment to correct
the underlying pathology. The main goals of surgery are expan-
sion and normalization of the calvarial shape to increase the
intracranial volume and normalization of craniofacial propor-
tions and occlusal relationships. Early (<1 year of age) proce-
dures aim to allow adequate intracranial volume for brain
growth and avoid potential consequences of increased intracra-
nial pressure. Surgical procedures during childhood and teen-
age years aim to correct midface retrusion and to improve the
airway, bony orbital volume, and occlusion. The two main surgi-
cal procedures for craniosynostosis repair are fronto-orbital
advancement (FOA) with open cranial vault remodeling and
strip craniectomy, which can be performed in a minimally inva-
sive endoscopic-assisted fashion. Each approach has its own
advantages and disadvantages and may or may not be indicated
based on the type of craniosynostosis and the age of presenta-
tion. Complications associated with surgical correction include
bleeding, infection, optic nerve ischemia, seizures, delayed
healing and other wound problems, incomplete bone healing
resulting in chronic bone defects, contour irregularities, and
need for additional surgical procedures.
Treacher Collins syndrome di ers from the aforementioned
syndromes in that it is not a syndromic craniosynostosis. By
contrast, Treacher Collins syndrome is the most common cleft-
associated syndrome and is also known as mandibulofacial dys-
ostosis. Occurring in 1 in 50,000 live births, Treacher Collins
syndrome is an autosomal dominant disorder of craniofacial
development, and its major clinical features include bilateral
absence or hypoplasia of the zygomas, cleft palate, midface
Table 2.1 Overview summary of craniofacial syndromes
Syndrome

Epidemiology

Category

Causative gene

Inheritance

Clinical features
Apert’s

1 in 65,000 live births Craniosynostosis

FGFR-2 (10q26.13)

Autosomal dominant Craniosynostosis (usu-
ally bicoronal), midface
hypoplasia, shallow
orbits, beaked nose,
conductive hearing loss,
complex acrosyndactyly
of hands and feet
Crouzon’s

1 in 60,000 live births Craniosynostosis

FGFR-2 (10q26.13)

Autosomal dominant Craniosynostosis (usu-
ally bicoronal), midface
hypoplasia, shallow
orbits, hearing loss
Muenke’s

1 in 30,000 live births Craniosynostosis

FGFR-3
Pro-250-Arg mutation
(4p16.3)
Autosomal dominant Craniosynostosis
(bicoronal or unicoro-
nal), midface hypoplasia
with ocular hypertelor-
ism, hearing loss, varia-
ble and low penetrance
limb malformations
Pfeiffer’s

1 in 100,000 live births Craniosynostosis

FGFR-1 (8p11.23-
p11.22), FGFR-2
(10q26.13)
Autosomal dominant Craniosynostosis
(usually bicoronal), mid-
face hypoplasia, shallow
orbits, hearing loss,
broad radially deviated
thumbs, widened great
toes, partial syndactyly
of fingers and toes
Saethre–Chotzen

1 in 25,000 to 1 in
50,000 live births
Craniosynostosis

TWIST1 (7p21.1)

Autosomal dominant Craniosynostosis (usu-
ally bicoronal), syndac-
tyly, congenital heart
defects, low frontal
hairline, ptosis, small
ears with prominent
horizontal crura
Treacher Collins

1 in 50,000 live births Cleft

TCOF1, POLR1D
(5q31.3-q33.3)
5 (5q31.3-q33.3), or
autosomal recessive
for POLR1C (6p22.3)
Autosomal dominant
(TCOF1, POLR1D)
Rarely, autosomal
recessive
(POLR1C)
Cleft palate, malar and
mandibular hypoplasia,
downward-slanting
palpebral fissures, colo-
boma of the lower lid,
microtia, conductive
hearing loss
Source: Upton 1991, Grieg and Dunaway 2015.
Craniofacial Syndromes
17

hypoplasia, micrognathia, microtia, and conductive hearing
loss. Recently, mutations in TCOF1 (Treacher Collins–France-
schetti syndrome 1) and POLR1D, in chromosome 5, have been
identified as the cause of Treacher Collins syndrome. The goals
of surgical treatment and overall management of patients with
Treacher Collins syndrome include palate repair, speech ther-
apy, construction of ears, reconstruction of the zygomatic
prominence, and correction of midface retrusion to improve the
airway and respiratory status as well as to improve occlusion.
Treacher Collins syndrome highlights and provides an excellent
example of the complex, surgically staged, multidisciplinary
team approach requisite for the care of patients with congenital
disorders, particularly those with cleft palate.
Herein, we describe the clinical diagnosis and management of
six syndromes, Apert’s, Crouzon’s, Muenke’s, Pfei er’s, Saethre–
Chotzen, and Treacher Collins syndromes, which together are
reflective of the wide spectrum of craniofacial syndromes con-
fronting pediatric plastic and reconstructive surgeons today.
2.2 Diagnosis
2.2.1 Craniosynostosis-Associated
Syndromes
Apert’s syndrome, or acrocephalosyndactyly type I, is seen in 1
in 65,000 live births and accounts for 4.5% of all craniosynosto-
sis cases. Characteristic clinical features of Apert’s syndrome
are craniosynostosis (usually bicoronal), turribrachycephaly,
down-slanting palpebral fissures, hypertelorism, exorbitism,
cleft palate, midface hypoplasia or retrusion, and complex syn-
dactyly of the hands and feet. The syndrome is caused by one of
the two FGFR-2 mutations on chromosome 10 (10q26.13), Ser-
252 and Pro-253. It either is inherited in an autosomal domi-
nant fashion or can arise de novo, with older paternal age being
a recognized risk factor for the de novo mutation. A specific
missense substitution involving adjacent amino acids, Ser-252-
Trp and Pro-253-Arg, in the linker between the second and
third extracellular immunoglobulin domains of FGFR-2 has
been identified as the causal mutation resulting in Apert’s
syndrome. Interestingly, there is a varying genotype–pheno-
type correlation among the two noted FGFR-2 mutations, Ser-
252 and Pro-253. Cleft palate, nasolacrimal stenosis, and severe
ocular findings, such as ptosis, strabismus, and amblyopia, are
more common in patients with the Ser-252 mutation in FGFR-2.
However, the degree of syndactyly and intellectual disability is
more significant in patients with the Pro-253 mutation in FGFR-
2. Moreover, males and females are a ected equally, and 50% of
children with a parent diagnosed with Apert’s syndrome will
inherit the condition. To confirm the diagnosis in a proband,
targeted mutation analysis of FGFR-2 for the mutations Ser-
252-Trp and Pro-253-Arg should be conducted, and if normal,
sequence analysis for rare FGFR-2 mutations or partial gene
insertions or deletions should be considered. In terms of
embryological etiology, Apert’s syndrome is classified as a bra-
chial arch syndrome a ecting the first brachial arch, which is
the precursor to the maxilla and mandible.
The two most notable clinical features of Apert’s syndrome
are craniosynostosis and severe syndactyly of the hands and
feet (Fig. 2.2 and Fig. 2.3). The Apert’s hand is a distinctive
and pathognomonic feature of the syndrome and is well
described by the Upton’s classification ( Table 2.2). As Upton
specified, the four most distinguishing features of the Apert’s
hand are as follows: (1) a short thumb with radial deviation, (2)
complex syndactyly of the index, long, and ring finger, (3) sym-
brachyphalangism, and (4) simple syndactyly of the fourth web
space. In fact, Apert’s syndrome is most easily clinically di er-
entiated from Crouzon’s syndrome by the soft tissue and bony
syndactyly in the hands and feet, which are not seen in Crou-
zon’s syndrome. In addition, the facial and cranial features
of Apert’s syndrom e are more prominent at birth than with
Crouzon’s syndrome, in which features develop progressively
throughout infancy.
Other cephalometric diagnostic features of Apert’s syndrome
include a shortened and widened anterior cranial fossa and
reduced bony orbital volume, leading to exorbitism. In the mid-
sagittal plane, there is a wide-open calvarial defect from the
root of the nose to the posterior fontanelle. Cloverleaf skull, or
kleeblattschadel, has been rarely reported in association with
Apert’s syndrome. There is a high incidence of cleft palate at
Fig. 2.2 Associated non-craniofacial findings are seen in certain craniosynostosis syndromes. Simple and complex syndactylies are associated with
Apert’s syndrome (photographs courtesy of Dr. Jeffrey A. Ascherman, Columbia University Medical Center, New York, NY).
Craniofacial Disorders
18

50%, divided equally with 25% true clefts and 2% pseudo-clefts.
The majority of patients with Apert’s syndrome have a high-
arched palate, which is seen in conjunction with an anterior
open bite and dental overcrowding. Notably, there is no associa-
tion with cleft lip. The lips are crossbow-shaped or trapezoidal,
and the lower lip usually protrudes. Ocular findings include
possible globe subluxation, downward slant of the lateral can-
thi, and a well-recognized S-shaped upper-eyelid ptosis. Finally,
there is often significant cutaneous involvement, with abnor-
mally thick skin encapsulating skeletal abnormalities, sebor-
rhea, and eventually facial acne as the patient ages.
Sequelae of Apert’s syndrome include, but are not limited to,
poor intellectual development, obstructive sleep apnea (OSA),
repeated ear or sinus infections, hearing loss, and ophthalmic
morbidity, namely strabismus with more esotropia than
exotropia.
Crouzon’s syndrome, or craniofacial dysostosis type I, has an
incidence of 1 in 60,000 live births in the United States (1 in
25,000 globally) and accounts for 4.8% of all craniosynostosis
cases. The syndrome is caused by a mutation in FGFR-2, and the
specific gene is on chromosome 10 (10q26.13). A specific muta-
tion within the FGFR-3 gene accounts for Crouzon’s syndrome
and acanthosis nigricans. Similar to Apert’s syndrome, Crou-
zon’s syndrome is an autosomal dominant genetic disorder as
well as a syndrome a ecting the first brachial arch, which is the
precursor for the maxilla and mandible. A tall, flattened
Fig. 2.3 Three-dimensional CTscan demonstrates the bilateral coronal synostosis and midface retrusion common in many syndromic craniosynostosis
cases, as compared to nonsyndromic, single-suture synostosis. (a) Metopic synostosis with patent coronal sutures and no midface retrusion. (b)
Apert’s syndrome with bilateral craniosynostosis and midface retrusion.
Craniofacial Syndromes
19

forehead secondary to usually bicoronal craniosynostosis, a
beaked nose, exorbitism, and mid-face hypoplasia characterize
the syndrome. Usually, Crouzon’s syndrome has a milder degree
of craniofacial deformity clinically when compared with Apert’s
syndrome. In contrast to Apert’s syndrome, patients with Crou-
zon’s syndrome rarely have cleft palate and usually have struc-
turally normal hands and feet as well as relatively normal
intelligence.
Diagnosis of Crouzon’s syndrome is most often made by clin-
ical assessment in infancy. Clinical suspicion is heightened
when the common triad of craniosynostosis, midfacial hypopla-
sia, and exorbitism is recognized. Further confirmatory studies
include genetic testing, skull radiographs, magnetic resonance
imaging scans, and computed tomographic scans. Craniosynos-
tosis is usually bicoronal, and in many cases, the synostosis can
be progressive in patients with Crouzon’s syndrome. The cra-
niosynostosis of Crouzon’s syndrome is typically associated
with a distinctive shortening of the anterior cranial fossa depth,
with orbital roof hypoplasia and advancement of the posterior
wall of the orbits, thus resulting in a severe ocular proptosis
and shallow orbits. Cervical abnormalities may be part of the
syndrome and can include butterfly vertebrae and fusions of
posterior elements. In addition, features of Crouzon’s syndrome
include conductive hearing loss, strabismus, anterior overbite,
short upper lip, mandibular prognathism, hypoplastic maxilla,
and small nasopharynx, necessitating mouth breathing.
Muenke’s syndrome has an incidence of 1 in 30,000 live
births and is the most common form of syndromic craniosynos-
tosis, accounting for up to 8% of all cases of craniosynostosis.
The syndrome is autosomal dominant and is due to a mutation
on the FGFR-3 gene, specifically a Pro-250-Arg base substitution
mutation that is found in 100% of the patients with the syndro-
me. It was the first clinical syndrome that was defined first on a
molecular basis by genetic mutation.
Clinically, Muenke’s syndrome presents with craniosynostosis,
usually bicoronal (71% of patients) or unicoronal (29% of
patients), and can occasionally present with megalocephaly,
without craniosynostosis. Patients have varying degrees of mid-
face hypoplasia, with ocular hypertelorism and strabismus. In
contrast to Apert’s syndrome, patients with Muenke’s syndrome
usually have normal hand and foot phenotypes but can report-
edly be found to have carpal or tarsal fusions. Unlike the hearing
loss characteristic of other syndromic craniosynostosis, patients
with Muenke’s syndrome su er from sensorineural hearing loss.
Finally, developmental delay and intellectual disabilities have
been reported in 33% of patients with Muenke’s syndrome.
Pfei er’s syndrome, or acrocephalosyndactyly type V, has an
incidence of 1 in 100,000 live births and is notable among the
group of syndromic craniosynostosis for its high mortality and
need for multiple surgical interventions (Fig. 2.4). Genetically,
the syndrom e is autosomal dominant, with incomplete pene-
trance and variable expressivity, and is linked to two genes
FGFR-1 (8p11.23–p11.22) and FGFR-2 (10q26.13). However,
unlike Muenke’s syndrome, where there is a one-to-one
genotype–phenotype correlation for the syndrome, Pfei er’s
syndrome boasts a wide spectrum of causal mutations and
genotypic variability; thus, the genetic diagnosis should be
approached systematically. To confirm the diagnosis of Pfei er’s
syndrome, sequence analysis of exons 8 and 10 should be done,
since these are the locations for approximately 80% of FGFR-2
mutations. If normal, then sequence analysis of exons 3, 5, 11,
14, 16, and 17 should be pursued, since these are the sites of
10% of FGFR-2 mutations. Testing of FGFR-1 mutation should be
considered if an FGFR-2 mutation is not found or if the patient
has a milder clinical phenotype.
Clinically, broad thumbs and big toes, valgus deformities, and,
occasionally, cardiac abnormalities distinguish patients with
Pfei er’s syndrome from those with other syndrom ic craniosy-
nostosis. In fact, measuring the angles between extended digits
of the hands can facilitate a clinical diagnosis of Pfei er’s syn-
drome. In addition, synostoses of the elbow and knee, hydroce-
phalus, and imperforate anus are reported frequently as
associated with Pfei er’s syndrome.
Owing to the wide phenotypic and genotypic variability of
the syndrome, Pfei er’s syndrome has been further classified
into three types according to a classification system described
by Cohen et al (Table 2.3). Pfei er’s syndrome type I involves
the classic, common phenotype of symmetric bicoronal cranio-
synostosis, variable syndactyly, broad thumbs, widened great
toes, normal intelligence, and relatively normal life span (or
rather survival to adulthood). Pfei er’s syndrome type II has
characteristic findings of severe ocular proptosis, ankylosis of
the elbows, broad thumbs, widened great toes, severe central
nervous system involvement with hydrocephalus, and visceral
anomalies and carries a poor prognosis. Pfei er’s syndrome
types II and III have significantly more severe phenotypes, with
bicoronal craniosynostosis in addition to multiple other
sutures, as well as severe developmental delay and shortened
life spans. Of note, the cloverleaf skull anomaly (kleeblattscha-
del) is unique to Pfei er’s syndrome type II.
Saethre–Chotzen syndrome, or acrocephalosyndactyly type
III, has an incidence in the range of 1 in 25,000 to 1 in 50,000
Table 2.2 Upton’s classification system of the Apert’s syndrome hand (1991)
Deformity

Type I
“Spade hand” (most common)
Type II
“Mitten hand”
Type III
“Hoof or rosebud hand”
Thumb radial clinodactyly

Present

Present

Present
Index radial clinodactyly

Absent

Present

Present
First web syndactyly

Simple (nonosseous)

Simple (nonosseous)

Complex (osseous)
Complex 2–3–4 syndactyly and
symbrachyphalangism
Present

Present

Present
4–5 syndactyly

Simple, incomplete

Simple, incomplete

Simple, complete
Source: Upton 1991, Grieg and Dunaway 2015.
Craniofacial Disorders
20

live births, and it is one of the most common types of syn-
dromic craniosynostosis. The syndrome is autosomal dominant,
with high penetrance and variable expressivity, involving muta-
tions of the TWIST1 gene on chromosome 7 (7p21.1).
Clinically, classic diagnostic findings for Saethre–Chotzen syn-
drome include unilateral or bilateral coronal craniosynostosis,
strabismus, ptosis, low frontal hairline, and malformed ears,
each with a distinctly small pinna and prominent superior crus.
In contrast to Apert’s syndrome, patients with Saethre–Chotzen
syndrome neither have syndactyly features of the hands and feet
nor have the proptosis feature characteristic of Crouzon’s syn-
drome. Patients with Saethre–Chotzen syndrome are clinically
di erentiated by their low-set frontal hairline, parrot-beaked
nose, brachydactyly, and milder bone deformities. In addition,
patients may have partial syndactyly of the fingers, usually
between the web space of the index finger and long finger.
2.2.2 Cleft-Associated Syndrome
Treacher Collins syndrome, or mandibulofacial dysostosis, has
an incidence of 1 in 50,000 live births and di ers from the pre-
viously discussed five craniofacial syndromes in that it is not a
syndromic craniosynostosis. Treacher Collins syndrome types I
and II are always autosomal dominant and are caused by one of
the two genes, TCOF1 or POLR1D (polymerase I, RNA, subunit D)
on chromosome 5 (5q31.3–q33.3). Very rarely, Treacher Collins
syndrome is autosomal recessive due to a POLR1C (polymerase
I, RNA, subunit C) mutation on chromosome 6 (6p22.3).
Although TCOF1, which accounts for 90 to 95% of cases, and
POLR1D mutations are associated with extreme clinical variabil-
ity, there is no specific phenotype–genotype correlation for the
various signs and symptoms of Treacher Collins syndrome. In
contrast to Apert’s and Crouzon’s syndromes, Treacher Collins
Fig. 2.4 (a) A nonsyndromic unilateral craniosynostosis versus (b,c) Pfeiffer’s syndrome. Note the proptosis and midface retrusion in the syndromic
patient.
Table 2.3 Cohen’s classification system of Pfei er syndrome (1993)
Pfeiffer’s syndrome type

Major characteristics

Associated anomalies

Prognosis
Type I

Turribrachycephaly, midface retru-
sion, broad thumbs, widened great
toes, brachydactyly, variable syn-
dactyly
Cervical spine fusions, low incidence
of visceral anomaly
Survival to adulthood
Type II

Cloverleaf skull, severe ocular prop-
tosis, severe mid-face retrusion,
digital anomaly
Spine anomaly, elbow synostoses,
intellectual delay, intracranial
anomaly
Poor
Type III

Absence of cloverleaf skull, severe
midface retrusion, ocular proptosis,
class III malocclusion, digital anom-
aly
Elbow/knee synostoses, visceral
anomaly, intellectual delay, intra-
cranial anomaly
Poor
Source: Cohen 1993, Buchanan et al 2014.
Craniofacial Syndromes
21

syndrome results in abnormal bilateral first and second brachial
arch development due to mutations in the gene TCOF1.
Treacher Collins syndrome is clinically heterogeneous, but
the following common clinical features distinguish patients
with this diagnosis: bilateral zygomatic and malar hypoplasia
and mandibular hypoplasia, including microgenia, microtia,
atresia of external ear canal, downward slanting palpebral
fissures, coloboma of the lower lid, hypoplasia of lower lid
lashes, cleft palate, conductive deafness, and choanal atresia
(Fig. 2.5). According to Tessier’s well-known and cited classifi-
cation of clefts, Treacher Collins syndrome consists of cleft
palate between the 6 through 8 positions. Cleft number 6 refers
to oral–ocular clefts, which is seen in incomplete forms of
Treacher Collins syndrome; cleft numbers 7 and 8 refer to lat-
eral facial clefts, with number 7 being the most common of all
craniofacial clefts. Airway management is a priority in new-
borns with Treacher Collins syndrome because of the narrow
pharyngeal diameter and mandibular shortening, often necessi-
tating intubation and tracheotomy.
In clinically diagnosing Treacher Collins syndrome, it is impor-
tant to consider acrofacial dysostoses in the di erential diagno-
sis. The absence of limb anomalies di erentiates Treacher Collins
syndrome from Nager’s and Miller’s syndromes. Although
oculoauriculovertebral (OAV) syndrome has overlapping facial
deformities with Treacher Collins syndrome, patients with OAV
syndrome are distinguished by hemifacial microsomia, with or
without epibulbar dermoids, bilateral anterior accessory auricu-
lar appendages, and vertebral abnormalities. These should all be
considered carefully in the di erential diagnosis, but recognizing
that Treacher Collins syndrome is bilateral.
2.3 Nonoperative Management
Nonoperative management is not recommended for these five
craniosynostosis-related syndromes: Apert’s, Crouzon’s, Muenke’s,
Pfei er’s, and Saethre–Chotzen, or for Treacher Collins syndrome.
2.4 Operative Treatment
2.4.1 Craniosynostosis-Associated
Syndromes
The treatment of five eponymous craniosynostosis-related
syndromes, that is, Apert’s, Crouzon’s, Muenke’s, Pfei er’s, and
Saethre–Chotzen syndromes, is surgical management and com-
prehensive, corroborative, clinical care by a multidisciplinary
team, including a plastic surgeon, neurosurgeon, otolaryngolo-
gist, ophthalmologist, orthodontist, dentist, pediatrician, clini-
cal geneticist, speech therapist, audiologist, and social worker.
The two main surgical options for craniosynostosis repair
are open cranial vault remodeling and minimally invasive
surgery. Minimally invasive surgeries, such as strip craniectomy
and spring-mediated cranioplasty, are better suited for single-
suture synostosis (such as sagittal synostosis) in patients
younger than 5 months. Currently, standard of care treatment
for syndromic craniosynostosis patients is as follows, in
sequence: (1) an initial FOA and cranial vault remodeling, (2) a
midface advancement procedure with or without distraction
(Le Fort III or monobloc), and (3) secondary orthognathic sur-
gery to correct any dentofacial deformities, that is, Le Fort I with
or without mandibular osteotomies. Conventionally, surgical
intervention is divided into an early and late timing period in a
child’s life. Early procedures, usually in the first 4 to 12 months
of life, include suture release, cranial vault decompression
with or without posterior vault remodeling, and upper orbital
advancement and reshaping. Late procedures occurring
between 4 and 12 years of age revolve around reconstructing
midface retrusion and deformities, whereas in late procedures
occurring between 14 to 18 years of life, jaw surgery is the pre-
eminent focus.
For early procedures, FOA should be performed during
infancy (before 12 months), since it is the period of most rapid
cerebrocranial growth, and it corrects fronto-supraorbital
Fig. 2.5 Treacher Collins’ clinical presentation (from three different patient angles) with malar hypoplasia, mandibular hypoplasia, absence of
zygomatic arch, microtia, atresia of external ear canal, downward slanting palpebral fissures, coloboma of the lower lid, and hypoplasia of lower lid
lashes.
Craniofacial Disorders
22

retrusion, protects the globes, reduces compensatory turrice-
phaly, and provides additional cranial space for the developing
brain. Very early correction at less than 6 months of age boasts
the advantage of an easily manipulated, malleable fronto-orbi-
tal bone. However, later correction between 6 and 12 months is
preferable in the authors’ opinion, since the cranial bone is
more substantial, facilitating rigid fixation, and the vast major-
ity of the abnormal cranial deformity has occurred, thereby
lessening the relapse potential following remodeling. Age at ini-
tial surgery, length of operation, and estimated blood loss are
all cited as not predicative of higher reoperation rates. However,
according to Wong et al, although the age at initial FOA did not
influence reoperative rates for craniosynostosis, phenotypic
syndromic diagnosis was the determinant for outcome, as
defined by need for secondary FOA, forehead plasty, or both.
Specifically, patients with Apert’s syndrome had the highest
incidence of reoperation for frontal retrusion or forehead
contour, as opposed to patients with Crouzon’ and Saethre–
Chotzen syndromes, who were most likely to express a minor
phenotype and did not require fronto-orbital correction.
However, recently, there has been rising interest in minimally
invasive approaches to syndromic craniosynostosis, with tech-
niques including endoscopic suture release, spring-mediated
cranioplasty, and distraction osteogenesis. Advocates for mini-
mally invasive surgery cite lower rates of morbidity and mortal-
ity as compared with open approaches. In light of this, open
repair of craniosynostosis has been increasingly reexamined,
with particular attention being paid to the degree of operative
blood loss, transfusion requirements, and hospital length of
stay, as compared with minimally invasive techniques. How-
ever, a recent publication on evidence-based approach to cra-
niosynostosis reported that FOA and cranial vault remodeling
are the mainstays of treatment of craniosynostosis. This report
by Chim et al in 2011 is corroborated by a very recent large-
scale national survey on current practice patterns for craniosy-
nostosis, which was distributed, given the great variability in
perioperative management of craniosynostosis. In this survey,
completed by 53 craniofacial surgeons, surgeons with greater
than 10 years of experience were significantly more likely to
perform open repair for craniosynostosis at the extremes of age
(<4 months and 8–12 months) and reported significantly
shorter operative times compared with their less-experienced
peers.
In addition, a retrospective study comparing extended-strip
craniectomy and cranial vault remodeling demonstrated that
cranial vault remodeling had a significantly higher improve-
ment in the cephalic index. Even in the extended-strip craniec-
tomy cohort that had the procedure in the first 4 months of life,
cranial vault remodeling still demonstrated improved results.
Although there is a paucity of literature on prospective long-
term studies comparing the results of extended-strip craniec-
tomy with molding helmet therapy compared with those of cra-
nial vault remodeling, cranial vault remodeling remains the
gold standard and is the authors’ preferred technique based on
experience and current evidence in the literature.
Regarding technique tips, for surgical access, a zigzag bicoro-
nal incision is best, since it prevents hair parting along a
straight line, and the scar tends to spread less due to redistribu-
tion of forces. Ideally, the incision should begin slightly anterior
and superior to the helix of the ear, and prudent caution should
be taken to not extend the incision at the expense of injury to
the temporal branch of the facial nerve. Dissection is done in
the subperiosteal plane until the area of the temporalis muscle
is reached. Of note, the temporalis muscle is not raised with the
coronal flap in order to allow it to be separately dissected and
repositioned after FOA. A rim of periosteum surrounding the
temporal muscle is left with the muscle during dissection of the
coronal flap. The dissection plane continues to be subperiosteal
anteriorly (medial to the temporalis muscle), but laterally (over
the temporalis muscle), it should be deep to the deep temporal
fascia, staying deep to the frontal branch of the facial nerve. As
the orbital rim is approached, and anterior to the temporalis
muscle, the entire plane becomes subperiosteal again. The peri-
orbita is carefully preserved and dissected away from the bony
supraorbital ridge. Small burr holes are utilized for the initial
craniotomy, and then, ultimately, using periosteal elevators, the
calvarium is elevated o of the dura. The frontal bones are as a
bifrontal craniotomy. An approximately 2 cm of supraorbital
ridge is left for the fronto-orbital bar, also known as a bandeau.
The fronto-orbital bar is removed separately, laterally starting
from the frontozygomatic (FZ) suture cephalad on the sphenoid
through the lateral portion of the orbital roof, staying anterior
to the temporal bone. Medially, the frontonasal suture is sepa-
rated. The superior orbital rim is separated from the anterior
cranial fossa by using an intracranial approach in concert with
the neurosurgeon and joining with the lateral orbital and fron-
tonasal cuts. The frontal bones are scored and then molded, for
instance, by using starburst craniotomies, and shaped to round
out the forehead. The fronto-orbital bar is similarly rounded
and is subsequently advanced anteriorly and fixed by rigid fixa-
tion. The frontal bones are then secured to the fronto-orbital
bar inferiorly and to the parietal cranium posteriorly. Barrel
stave osteotomies are used to harvest parietal bone as bone
grafts to bridge the gaps after advancement (Fig. 2.6). Rigid
fixation is best achieved with absorbable plates, which are com-
posed of a combination of polyglycolic acid and polylactic acid
that absorb by hydrolysis in 1 to 3 years.
Subsequently, distraction of the hypoplastic midface should
be performed between 4 and 8 years of age. The decision for
when this second phase in the surgical timeline occurs is predi-
cated on the patient’s degree of comorbid airway obstruction,
OSA, ocular or dental issues, and overall health status.
Le Fort III or the monobloc procedure is done to correct
midface retrusion ( Fig. 2.7). A Le Fort III advancement encom-
passes a complete craniofacial dysjunction and allows move-
ment of the midface only, whereas a monobloc includes the
anterior cranium, so that the forehead and midface are moved
in the same operation. Although advantageous for its simulta-
neous correction of the forehead and midface deformity, the
monobloc procedure is associated with greater blood loss, risk
of cerebrospinal fluid (CSF) leak and higher infection rate, due
to the nature of direct communication between the cranial and
nasal cavities.
Briefly, in a Le Fort III advancement, the lateral osteotomies
are as follows: (1) the FZ suture carrying inferiorly to separate
the greater wing of the sphenoid and the zygoma (lateral orbital
wall) to the inferior orbital fissure, and (2) the zygomatic arch is
osteotomized to fully mobilize the zygoma. Inferior and poste-
rior to the FZ suture, the osteotomies include the pterygomaxil-
lary junction. Medially, the osteotomies include the frontonasal
Craniofacial Syndromes
23

Fig. 2.6 Fronto-orbital advancement (FOA) intraoperative photographs.
Fig. 2.7 Osteotomies for Le Fort III (yellow and red) and monobloc advancement (green and red). In monobloc advancement, the frontal bones are
also removed in order to provide access to the orbital roof. The dashed blue line denotes the frontal craniotomy for access to the orbital roof.
Craniofacial Disorders
24

junction, which is carried down posterior to the lacrimal fossa
in order to separate the ethmoid and lacrimal bones, thereby
facilitating greenstick fracture and en bloc movement of the
ethmoid and lacrimal bones contiguous with the midface
(medial orbital wall and orbital floor). Prudent care is taken
to not disrupt the medial canthus and lacrimal apparatus.
Subsequently, the ethmoid and vomer are osteotomized and
separated from the cranial base. Then, the pterygomaxillary
junction is osteotomized and greenstick fractured, which allows
for the final step of the midface being down fractured and
mobilized.
In a monobloc advancement, the frontal bones are mobilized
with the midface. In contrast to the Le Fort III advancement, the
fronto-orbital bar is included with the midface for mobilization.
First, the approach begins with a bifrontal craniotomy to allow
access to the orbital roof and crista galli. Prudent care must be
taken to remain anterior to the crista galli in order to minimize
risk of damage to the olfactory nerves or incurring a CSF leak.
The orbital roof is separated from the cranial base via an intra-
cranial approach. The osteotomy is carried laterally to include a
portion of the lateral frontal bone posterior to the lateral orbital
rim. The FZ and frontonasal sutures are left intact. Overall, the
osteotomies for the lateral and medial orbital walls and the
orbital floor, the pterygomaxillary junction, and the ethmoid/
vomer separation from the cranial base are similar to the Le
Fort III procedure.
Finally, orthognathic surgery is the last phase of reconstruc-
tion, with a Le Fort I osteotomy or bimaxillary surgery being
utilized to achieve normal occlusion.
2.4.2 Craniosynostosis-Associated
Syndromes: Syndrome-Specific
Considerations
All of the aforementioned craniosynostosis syndromes have
abnormal, premature fusion of one or more cranial sutures.
However, Apert’s and Pfei er’s syndromes have prominent
midface retrusion, whereas the midface position is less severely
a ected in other conditions such as Muenke’s and Saethre–
Chotzen syndromes. Surgical and nonsurgical management will
have to be tailored based not only on the genetic and clinical
diagnoses but also on the severity of symptoms, presence of
midface hypoplasia, and functional compromise experienced by
the patient. For these craniosynostosis syndromes, it is best to
categorize specific management considerations by the presence
or absence of midface hypoplasia.
For both Apert’s and Pfei er’s syndromes, the treatment
is surgical management and comprehensive, corroborative
care by a multidisciplinary team, including a plastic surgeon,
neurosurgeon, otolaryngologist, ophthalmologist, orthodontist,
dentist, pediatrician, clinical geneticist, speech therapist,
audiologist, and social worker.
For Apert’s syndrome, FOA and cranial vault remodeling in
infancy at about 9 months of age (age range, 9–12 months) are
the current standard for treatment. Bony fixation is best
achieved with biodegradable plates and screws, as opposed to
titanium plates and screws. Clinically, 95 to 100% of patients
with Apert’s syndrome who had undergone FOA and cranial
vault remodeling in infancy will need reoperation, and forehead
recession after initial reconstruction occurs. Allam et al present
one of the longest available follow-up studies for surgical cor-
rection of patients with Apert’s syndrome, with a mean follow-
up of 22.5 years following FOA, and provide invaluable insight
into psychosocial integration of patients with Apert’s syndrome
into society.
Both forehead recession and midface hypoplasia contribute
to the functional and aesthetic considerations in the treatment
of Apert’s syndrome. In the presence of both forehead and mid-
face deformities, monobloc advancement and asymmetric facial
bipartition is the preferred operation. If only a midface deform-
ity is present, a subcranial Le Fort III operation is the preferred
procedure. Given the complex facial and cranial deformities
defining Apert’s syndrome, parents may advocate for earlier
midface advancement at the age of 4 or 5 years. However, it is
advantageous to consider waiting until the age of 6 or 7 years,
when mixed dentition has been achieved and most children
have reached cranial vault and orbit sizes similar to adult size.
However, it must be fully recognized by both the treating team
and patients’ parents that surgical midface advancement does
not lead to normal growth thereafter in children with Apert’s
syndrome. Thus, additional surgical procedures needed can
include Le Fort I osteotomy, nasal dorsum augmentation, myr-
ingotomy, and surgical contouring over the superficial temporal
fat pads due to hypoplasia. It is important to note that surgical
interventions for the treatment of Apert’s syndrome are associ-
ated with relatively low complication rates; mean infection rate
is 2.3% following cranial vault procedures and 6.5% following
midface advancements.
Regarding management of the pathognomonic pan-syndac-
tyly involving both the hands and feet, treatment can be sepa-
rated into two phases: early (syndactyly releases) and late
(functional osteotomies). As described recently by Fearon,
improved surgical treatment of Apert’s hands and feet now
involves the following practices: (1) the release of all 10 fingers
and toes in only two operations, (2) elimination of routine digi-
tal amputations, (3) adoption of the straight-line release and
abandonment of the zigzag incision, (4) leaving of small areas
of exposed bone without vascularized tissue coverage, and (5)
performance of mid-phalangeal osteotomies in older children
to improve hand function.
For Pfei er’s syndrome specifically, elevated intracranial
pressure is more common with multisuture craniosynostosis,
and it is an important consideration in management, especially
with type II featuring cloverleaf skull (kleeblattschadel). Coordi-
nation between the neurosurgeon and plastic surgeon is vital to
complete cranial vault expansion in the first year of life in order
to allow the possibility for normal brain development.
As with all syndromic craniosynostosis, Pfei er’s syndrome
should be treated in the first 9 to 12 months of age with an
anterior cranial vault expansion by FOA and cranial vault
remodeling. Ultimately, the objectives of early cranial vault sur-
gery and FOA in this patient population are to provide adequate
repositioning of the forehead and cranium, to facilitate su -
cient volume for brain development, and to o er ocular protec-
tion. Subsequently, midface hypoplasia is usually corrected in
late childhood or early adolescence by Le Fort III osteotomy or
monobloc advancement. Finally, orthognathic surgery is the last
phase of reconstruction with a Le Fort I osteotomy or bimaxil-
lary surgery to achieve normal occlusion.
Craniofacial Syndromes
25

For continuity of care in the management of both Apert’s and
Pfei er’s syndromes, multidisciplinary team follow-up should
be scheduled for the patient at 1 month postoperatively and
subsequently once every 3 months after each major surgical
procedure. This is the minimum requirement for follow-up with
the team, and most patients require more frequent visits in the
first 6 months postoperatively. Thereafter, follow-up appoint-
ments should be scheduled annually until late adolescence.
Treatment goals should be focused on preventing avoidable
developmental delays secondary to increased intracranial pres-
sure and OSA, minimizing the number of operative interven-
tions, and achieving normalized skeletal appearance by skeletal
maturity. Patients and patients’ parents should be asked about
any respiratory di culties, ocular complaints, hearing issues,
signs, and symptoms suggestive of increased intracranial pres-
sure as well as psychosocial and educational development. Skull
circumference measurements, facial feature assessments, and
radiographs should be obtained at regular intervals. Patients’
parents should be counseled appropriately on the need for
ongoing follow-up and the prospect of multiple reoperations to
account for the multifactorial nature of these craniofacial
syndromes.
Furthermore, for Crouzon’s, Muenke’s, and Saethre–Chotzen
syndromes, the treatment is surgical management and
comprehensive, corroborative care by a multidisciplinary team,
including a plastic surgeon, neurosurgeon, otolaryngologist,
ophthalmologist, orthodontist, dentist, pediatrician, clinical
geneticist, speech therapist, audiologist, and social worker.
As with all syndromic craniosynostosis, Crouzon’s, Muenke’s,
and Saethre–Chotzen syndromes should all be treated in the
first 9 to 12 months of age with an anterior cranial vault expan-
sion by FOA and cranial vault remodeling. Ultimately, the objec-
tives of early cranial vault surgery and FOA in this patient
population are to provide adequate repositioning of the forehead
and cranium, to facilitate su cient volume for brain develop-
ment, and to o er ocular protection. Although much less com-
mon with these three syndromes, midface hypoplasia, if present,
is usually corrected in late childhood or early adolescence by Le
Fort III osteotomy or monobloc advancement. Finally, orthog-
nathic surgery is the last phase of reconstruction with a Le Fort I
osteotomy or bimaxillary surgery to achieve normal occlusion.
Notably, patients with Muenke’s syndrome have the lowest
incidence of cleft palate among the craniosynostosis syn-
dromes. However, there is a very high incidence of high-arched
palate in Muenke’s syndrome, which merits close follow-up and
treatment. Because of this high-ached palate and likely interfer-
ence with the tensor veli palatini muscle, chronic otitis media
occurs frequently in this patient population. Hence, patients
with Muenke’s syndrome can develop recurrent chronic otitis
media with e usion and hearing loss, and development of these
sequelae should be monitored as part of the treatment plan.
Finally, Crouzon’s, Muenke’s, and Saethre–Chotzen syn-
dromes have extensive psychosocial and aesthetic considera-
tions, and management necessitates a multidisciplinary team
approach in close communication with patients’ parents. Rou-
tine postoperative follow-up visits should be scheduled at 1
month and subsequently once every 3 months after a major
procedure for craniosynostosis repair. Then, the patient should
follow up with the craniofacial team every year until late ado-
lescence for ongoing evaluation.
2.4.3 Cleft-Associated Syndrome
The treatment of Treacher Collins syndrome is surgical manage-
ment and requires collaboration among a multidisciplinary
team, including a plastic surgeon, neurosurgeon, otolaryngolo-
gist, ophthalmologist, orthodontist, anesthesiologist, dentist,
pediatrician, clinical geneticist, speech therapist, audiologist,
and social worker. The key to the surgical management of these
patients is intervention of a cross-disciplinary team and correct
surgical timing for the various stages of reconstruction, with
consideration for both physical and mental development.
Although airway management is the initial priority, often
with tracheostomy, the subsequent reconstructive surgeries
proceed in a staged, timely fashion. First, within 9 to 12 months
after birth, surgeries alleviating feeding di culties are per-
formed, namely glossopexy and cleft palate repair. Of note, the
repair technique utilized for these cleft palates should be the
same as those used for routine nonsyndromic cleft cases. Start-
ing from the age of 3 years to adolescence, patients with
Treacher Collins syndrome who have cleft palates should work
closely with a speech therapist to maximize speech function
and outcomes. Reconstruction of the orbitozygomatic region
should be performed at approximately 8 to 10 years of age with
autologous bone grafts. For ocular reconstruction, lateral cantho-
plasty can be secured to the reconstructed malar complex, and
lower eyelid colobomas can be addressed with a pedicled upper
to lower eyelid musculocutaneous flap. Third, external ear con-
struction for microtia is performed at approximately 8 years of
age or older. The four-staged surgical technique for the ear,
described by Brent, which begins with the construction of an
autologous rib cartilage framework, is the authors’ preference for
treatment. Other ear construction methods that are commonly
used include variations of autologous costal cartilage grafts,
namely the Nagata’s two-stage technique, the Walton and
Beahm’s technique, the Tanzor’s technique, tissue expansion,
implants, osseointegration, and prostheses. Finally, orthognathic
surgery should be completed between the ages of 16 and 18 years
following achievement of skeletal maturity. Of note for the treat-
ment of malocclusion, if the temporomandibular joint is absent,
a costochondral graft should be placed at approximately 6 to
10 years of age and then subsequently addressed with further
orthognathic surgery in late adolescence.
2.5 Complications
Possible surgical complications following cranial vault remodel-
ing include the following:
● Hemorrhage.
● Infections.
● Injury to the dura.
● Bony contour irregularity.
● Bony defect.
Possible surgical complications following Le Fort III and
monobloc frontofacial advancement are sim ilar. However,
given its added intracranial approach and the inherent com -
munication between cranial and nasal cavities, the m onobloc
procedure carries added risk of intracranial injury, CSF leak,
and infections overall. Com plications for Le Fort III include
the following:
Craniofacial Disorders
26

● Globe injury.
● Optic nerve injury.
● Ocular exposure.
● Stripping of the medical canthal tendon.
● Enophthalmos.
● Temporal fat atrophy.
● Hemorrhage.
● Infections.
● Inadvertent extubation.
● Injury to developing or permanent dentition.
● Hardware failure (if distraction is utilized).
● Hardware infections (if distraction is utilized).
In addition to these, the monobloc procedure has added risk of
the following:
● CSF leak: common occurrence (2–20% of cases) but usually
self-resolving.
● Frontal bone flap loss: 2%; however, rates vary widely in the
literature.
● Infections: Due chiefly to the inherent communication
between intracranial and nasal cavity, with lower rates found
for distraction osteogenesis.
● Mortality: Uncommon (0–4.5%, with most recent series quot-
ing rates under 1%).
● Mucocele: Long-term risk.
Possible surgical complications following microtia repair include:
● Infection, in most severe case can lead to total loss of cartilage
graft.
● Skin envelope viability and healing, may need salvage with
temporoparietal fascial flap and full thickness skin graft.
● Hematoma.
● Seroma.
2.6 Conclusion
Craniofacial syndromes can be divided into two major catego-
ries: craniosynostosis- and cleft-associated syndromes. The
diagnosis and management of syndromic craniofacial anomalies
are complex due to the overlapping and variable phenotypic
presentations. Common forms of syndromic craniosynostosis
include Apert’s, Crouzon’s, Muenke’s, Pfei er’s, and Saethre–
Chotzen syndromes, whereas Treacher Collins syndrome is the
most common cleft-associated mandibulofacial dysostosis con-
dition. Management of patients with craniofacial syndromes
includes accurate diagnosis, correctly timed surgical operations
in a staged fashion, close involvement of the patients’ families,
as well as psychosocial and aesthetic considerations for the
pediatric patients. A multidisciplinary team approach is vital to
a successful outcome, and the involvement of a pediatric plastic
surgeon in the surgical management of these complex craniofa-
cial syndromes is central.
2.7 Key Points
● Common forms of syndromic craniosynostosis include
Apert’s, Crouzon’s, Muenke’s, Pfei er’s, and Saethre–Chotzen
syndromes, whereas Treacher Collins syndrome is the most
common cleft-associated mandibulofacial dysostosis
condition.
● All of the craniosynostosis syndrom es discussed (Apert’s,
Crouzon’s, Muenke’s, Pfei er’s, and Saethre–Chotzen) have
abnormal, premature fusion of one or more cranial sutures.
However, Apert’s and Pfei er’s syndrom es have prominent
midface retrusion corrected by Le Fort III or monobloc proce-
dure, whereas the midface position is less severely a ected in
other conditions such as Muenke’s and Saethre–Chotzen syn-
dromes. Surgical management will have to be tailored based
not only on the genetic and clinical diagnosis but also on the
severity of symptoms, presence of midface hypoplasia, and
functional compromise experienced by the patient.
● The two main surgical procedures for craniosynostosis repair
are FOA with open cranial vault remodeling and strip craniec-
tomy, which can be performed in a minimally invasive endo-
scopic-assisted fashion. The goals of surgical treatment and
overall management of patients with Treacher Collins syndro-
me include palate repair, speech therapy, construction of ears,
reconstruction of the zygomatic prominence, and correction
of midface retrusion to improve the airway and respiratory
status as well as to improve occlusion.
● Management of patients with craniofacial syndromes
includes accurate diagnosis, correctly timed surgical opera-
tions in a staged fashion, close involvement of the patients’
families, and psychosocial and aesthetic considerations for
the pediatric patients. A multidisciplinary team approach is
vital to a successful outcome.
Suggested Readings
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sion 375–376
Buchanan EP, Xue AS, Hollier LH. Craniofacial syndromes. Plast Reconstr Surg.
2014; 134(1):128e–153e
Cohen MM. Pfei er syndrome update, clinical subtypes, and guidelines for
di erential diagnosis. Am J Med Genet. 1993; 45(3):300–307
Fearon JA, Podner C. Apert syndrome: evaluation of a treatment algorithm.
Plast Reconstr Surg. 2013; 131(1):132–142
Fearon JA, Whitaker LA. Complications with facial advancement: a compari-
son between the Le Fort III and monobloc advancements. Plast Reconstr Surg.
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Fuente del Campo A, Martinez Elizondo M, Arnaud E. Treacher Collins syn-
drome (mandibulofacial dysostosis). Clin Plast Surg. 1994; 21(4):613–623
Grieg AVH, Dunaway DJ. Craniosynostosis. In: Farhedieh RD, Bulstrode NW,
Cugno S, eds. Plastic and Reconstructive Surgery: Approaches and Techni-
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anomalies. Clin Plast Surg. 1990; 17(1):161–182
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the timing, treatment, and complications in 164 consecutive patients. Plast
Reconstr Surg. 1987; 80(2):195–212
Wilkie AO, Slaney SF, Oldridge M, et al. Apert syndrome results from localized
mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995; 9
(2):165–172
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Apert, Crouzon, Pfei er, and Saethre-Chotzen syndromes. Plast Reconstr
Surg. 2000; 105(7):2314–2323
Craniofacial Syndromes
27

3 Deformational Plagiocephaly, Brachycephaly, and
Scaphocephaly
Gary F. Rogers and Benjamin C. Wood
Sum m ary
Deformational plagiocephaly is a common condition that a ects
infants. Patients have a head preference when supine, usually
because of torticollis. As a result, the cranium becomes mis-
shaped over the first few months of life. Treatment includes
positioning strategies or cranial molding device.
Keywords: deformation, torticollis, helmet, plagiocephaly, bra-
chycephaly, scaphocephaly
3.1 Introduction
In 1992, the American Academy of Pediatrics initiated the “Back
to Sleep Campaign” in an e ort to reduce the incidence of sud-
den infant death syndrome. This policy advocated a paradigm
shift of infant sleep positioning in Western countries from
prone to supine. The recommendation was widely imple-
mented and resulted in an estimated 40% reduction in the inci-
dence of sudden infant death syndrome in the United States.
One of the unforeseen consequences of the campaign was a rise
in deformational cranial flattening and asymmetry. Such alter-
nations of cranial shape were less commonly seen in prone-
slept infants and were very common in certain Eastern coun-
tries that historically placed their sleeping infants supine. How-
ever, precipitous rise in deformational changes in the early
1990s sparked much concern from clinicians and parents alike.
Several large craniofacial centers even misdiagnosed this condi-
tion as lambdoidal craniosynostosis and began undertaking
widespread operative correction. The confusion eventually
cleared; however, the diagnosis and treatment of plagiocephaly
remain a topic of much debate. According to some estimates,
the prevalence is as high as 20% in healthy infants.
3.2 Diagnosis and Terminology
The literature is full of incorrect terminology related to defor-
mational flattening. Many authors and clinicians refer to every
form of cranial flattening as “plagiocephaly.” This generally
applied term is nonspecific. Deformational cranial flattening can
be asymmetric, symmetric, or a combination. Plagiocephaly is
derived from the Greek words plagios, meaning oblique or
slanted, and kephalē, meaning head (Fig. 3.1). This condition
occurs primarily in infants who consistently favor turning their
head to one side, that is, those with congenital muscular torticollis
(CMT). The resultant cranial shape has been compared to a “paral-
lelogram,” but the frontal asymmetry is less severe than what is
observed in the occiput, and the shape is more trapezoidal. Asym-
metric growth of the head often is accompanied by facial asym-
metry—anterior (sagittal) shift of the ipsilateral forehead, ear, and
cheek. Plagiocephaly is the most common cause of clinically evi-
dent facial asymmetry in infants and should be included in the
di erential diagnosis for any child with such findings.
Brachycephaly (Greek word brachy = short) denotes symmet-
rical occipital flattening and compensatory parietal widening.
Infants with this condition have little or no rounding on the back
of the head and appear to have a disproportionately wide or
“big” head when viewed from the front (Fig. 3.2). The posterior
vertex may appear taller than the front (turricephaly), giving a
sloped appearance to the head in profile. The cranial width-to-
length ratio, termed the cranial or cephalic index (CI), is gener-
ally higher than normal (>0.85). Most children with this condi-
tion also have some element of concurrent asymmetry, or
plagiocephaly. The combination e ect, termed “asymmetric bra-
chycephaly,” is the most common type of deformational shape.
Deformational scaphocephaly (“boatlike head”) is an uncom-
mon variant of plagiocephaly ( Fig. 3.3). It is more commonly
Fig. 3.1 Right posterior deformational plagioce-
phaly.
Craniofacial Disorders
28

seen in infants who have extreme head rotation to one side or in
premature infants that are positioned side to side in the inten-
sive care units. Flattening develops on the side(s) of the head,
and compensatory expansion occurs in the anterior and posterior
cranium. These infants tend to develop a long, slender head, col-
loquially referred to by some as a “toaster head.” There is often
relatively pronounced facial asymmetry. This presentation can be
confused with scaphocephaly caused by sagittal craniosynostosis,
or premature fusion of the sagittal suture. In contrast to defor-
mational scaphocephaly, sagittal craniosynostosis typically
results in frontal bossing, bilateral occipital/parietal narrowing
posterior to the anterior fontanelle, and decreased vertical height
of the posterior cranium. Facial asymmetry is rare in sagittal syn-
ostosis. Most infants with this type of craniosynostosis have a
head circumference in excess of the 90th percentile.
3.2.1 Radiographic Imaging
In general, any child with an abnorm al head shape should be
referred to a specialist before ordering radiographic studies. The
overwhelming majority of infants with cranial asymmetry will
have deformation and not synostosis, and a specialist can usu-
ally distinguish these processes from craniosynostosis by his-
tory and physical examination alone. This approach avoids
Fig. 3.2 Deformational brachycephaly.
Fig. 3.3 Deformational scaphocephaly.
Deformational Plagiocephaly, Brachycephaly, and Scaphocephaly
29

exposing infants to unnecessary radiation and possible anes-
thetic exposure. If imaging is deemed necessary, the specialist
is best suited to determine what is needed, based on the diag-
nostic need. The accuracy of plain radiography to diagnose
suture fusion is questionable. Computed tomography (CT) is
costly, often requires sedation, and involves low-dose ionizing
radiation. The impact of such exposure is controversial; how-
ever, theoretical studies suggest that even a low-dose CT in an
infant can increase the risk of lethal brain cancer.
3.3 Etiology
Deformational changes are thought to arise predominantly in
the postnatal period in response to external forces between the
sleeping surface or bed and the growing infant cranium. The
cranium grows passively in response to minor internal pressure
exerted by the rapidly growing infant brain. This process is fast-
est in early infancy and tapers dramatically even after the first
year of life. When an infant is placed on a resting surface, there
is a contact force generated between the head and the surface
(Newton’s third law). If the point of contact is not changed, the
counterforce will restrict cranial growth in the area of contact,
and over time, any volume increases will be displaced to areas
where there is no resistance (Fig. 3.4). This is analogous to
how a pumpkin flattens as it grows in a field—it cannot expand
into the ground and must grow parallel to it. Most parents of
a ected children begin to notice head flattening in their infants
at an average of 6 to 8 weeks of age, because it takes this long
for cranial flattening to manifest. The compensatory and redir-
ected growth will result in progressive flattening. Fortunately,
most infants have su cient neck range of motion and strength
to alter (or allow the parent to alter) their head position and
the area of contact with the bed. Those who lack this capacity
are at greatest risk for developing flattening.
The reasons why some infants are able to change their head
position (and avoid flattening) while others are not is worth
discussion. Numerous risk factors have been linked to the
development of deformational flattening, including supine
sleep position, multiple births, developmental delay, small
maternal pelvis, breech position, oligohydramnios, male gender,
gestational diabetes, nulliparity of mother, high birth weight,
large neonatal head size, vaginal delivery, prolonged length of
postdelivery hospital stay (>4 days), and prolonged duration of
stage II labor. Although these variables seem unrelated, they
share a common pathogenic link to the development of defor-
mational cranial flattening: each directly or indirectly impairs
infant head mobility early in life. For example, most of the risk
factors described earlier are also associated with the develop-
ment of CMT, the most common risk factor for deformational
flattening. Congenital muscular torticollis is not always easy to
detect in a newborn, but the presence of a “preferred” head
position early in life is highly suggestive. Infants with CMT have
restricted motion in one direction and excessive head rotation
in the other. This is an imbalance of the sternocleidomastoid
muscles from in utero positioning—one contracted and the
other stretched and atrophied. The characteristic head position
is tilted to one side (toward the side of the tight muscle) and
rotated to the other (toward weaker muscle). In most infants,
increased motor development allows gradual resolution of
CMT. The timing of improvement can vary based on the severity
of the contracture or imbalance and the neuromuscular devel-
opment of the infants. Once the infant can move his or her head,
usually at 4 months of age, further flattening is unlikely.
The two other major etiologic groupings, prematurity and
developmental delay, can also increase the risk of developing
cranial flattening because they delay the development of inde-
pendent head mobility. In infants who have both CMT and one
of these other variables (e.g., twins), the risk of developing
deformational flattening is markedly increased.
3.4 Assessment
Direct or indirect anthropometry o ers some objective stand-
ard on which to predicate treatment. Direct measurements can
be easily obtained using an anthropometric caliper ( Fig. 3.5).
Deformational brachycephaly (DB) is almost always quantified
by using CI, which is the maximum width of the head divided
by the anteroposterior length (Fig. 3.6). Deformational plagio-
cephaly (DP) is quantified by the degree of asymmetry, using
either absolute measurements (the di erence between two
oblique head measurements; Fig. 3.7) or cranial ratios (the
ratio of one oblique to the other, or the absolute di erence div-
ided by head length). The use of ratios to assess asymmetry is
inherently flawed, since any degree of fixed asymmetry will
appear to “improve” as the head grows in total size. Surface
laser scans are also now widely used and are a reasonable proxy
for direct anthropometry. This method also provides a three-
dimensional visual of the head shape.
3.5 Prevention and Treatment
3.5.1 Infants at Risk: Early Identification
and Intervention
The best opportunity to prevent deformational flattening is to
identify at-risk infants, and the most important piece of infor-
mation is whether or not the infant has a head positional pref-
erence. This simple observation is the key to identifying most
Fig. 3.4 Mechanism of flattening; progressive cranial expan-
sion against a flat surface.
Craniofacial Disorders
30

vulnerable infants. Traditional recommendations for infants
who appear at risk for DP or DB, or have just started to develop
a flat spot, include physical therapy to address the cervical mus-
cular contracture and repositioning. Data to support these rec-
ommendations are sparse. Repositioning is possible only in very
young and immobile infants (<4 months of age) and, if done
consistently, may serve to prevent or limit further deformation.
This method is extremely di cult to use in older, mobile infants
and is generally ine ective at correcting established flattening.
Sleep surface alterations have shown promise in preventing and/
or correcting plagiocephaly in infants younger than 4 months.
3.5.2 Older Infants
By the age of 4 months, most infants begin to develop head con-
trol and are mobile enough that they should not develop
Fig. 3.5 Cranial caliper for direct anthropometry.
Fig. 3.6 Measurement of cranial index (width/
length).
Deformational Plagiocephaly, Brachycephaly, and Scaphocephaly
31

further flattening. The vast majority of infants with torticollis
will have improved to a point where their head rotation is
unrestricted and the concurrent head tilt may be subtle, inter-
mittent, or completely absent. Most infants can easily move o
wedges and other such devices, and the only option is either
continued observation or a helmet orthotic. Indications for
treatment are quite variable, and most clinicians make this
decision based on subjective impression of severity or some
arbitrary measure of severity (e.g., <12 mm transcranial di er-
ence or cranial index of <0.90). If left untreated, continued
growth of the cranium tends to mitigate the severity of the flat-
tening since a fixed amount of flattening on a larger head will
look relatively less pronounced. However, one need not look far
to find an adult or an older child with persistent symmetric or
asymmetry occipital flattening will appear less pronounced
(Fig. 3.8). Asymmetry will also appear less obvious as hair
grows and as the child grows taller because the posterior con-
tour is less obvious when viewed from the posterior perspec-
tive (as in an adult) than from a top view (as one often sees
infants and young children).
Although an association between deformational flattening
and developmental delay has been reported, it is important to
understand that it is the neurocognitive delay that leads to an
increased risk of cranial flattening (presumably due to delayed
motor development and voluntary head repositioning). There is
no evidence that cranial flattening a ects cognitive or motor
development. There is no convincing evidence that deforma-
tional flattening causes impairment of visual development or
temporomandibular joint (TMJ) function, malocclusion, or
other medical conditions.
3.5.3 Helmet Therapy
Helmet orthosis is a useful, and often the only, way to improve
moderate and severe deformational flattening. These devices
have an excellent track record of safety and e ectiveness and
are very well tolerated by infants (Fig. 3.9). A common mis-
conception is that the helmet is actively “molding” or squeezing
the cranium and will cause discomfort or limit brain growth.
Helmets do not compress the cranium and act more like a brace
to redirect remaining cranial growth toward the flattened areas
(Fig. 3.10). A few reports have concluded that helmets are
no more e ective than observation alone, but these investiga-
tions su er from methodologic flaws (i.e., using oblique cranial
ratios instead of absolute measurements) that render these
Fig. 3.7 Measurement of transcranial difference (long oblique–short
oblique).
Fig. 3.8 A 10-year-old male child with severe persistent right posterior plagiocephaly (Transcranial difference (TCD) = 21 mm; normal 3–5 mm). (a)
Vertex view: the asymmetry is pronounced when viewed perpendicular to the plane of the discrepancy. (b) Posterior view: the asymmetry is difficult
to detect when viewed in the plane of the asymmetry.
Craniofacial Disorders
32