Plastic and Reconstructive Surgery Board Review Pearls of Wisdom 3th

567
David Michael Miller, MD, PhD, FAAD and
Lydia Anne Helliwell, MD

Approximately how many new melanomas are diagnosed each year and roughly how many patients die rom
melanoma annually?
T ere are approximately 75,000 new cases o melanoma diagnosed each year and between 9,000 and 10,000
patients die rom melanoma annually.

What are the ABCDEs o melanoma?
A: Asymmetry
B: Border irregularity
C: Color variegation or change
D: Diameter greater than 6 mm
E: Evolutionary changes in color, symmetry, size, shape, or symptoms

What are some o the common known risk actors or the development o melanoma?
Environmental:
1. Exposure to ultraviolet radiation (UVR)
2. History o sunburns, particularly in childhood or sunburns that induce severe pain/blistering
Personal:
1. Red hair
2. Skin type
3. Sun sensitivity
4. Family history
5. Number o moles present (risk increases as number o moles increases)
6. Personal history o melanoma
7. Female sex
8. Immunosuppression
9. Diagnosis o xeroderma pigmentosum
10. History o dysplastic nevi
11. Inherited genetic mutations (e.g., mutations in CDKN2A, CDK4, and ER )
Malignant Melanoma:
Basis and Treatment
CHAPTER 58

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Plastic & Reconstructive Surgery Board Review

What is the most common type o melanoma?
Super cial Spreading Melanoma (SSM)
Accounting or approximately 60% to 70% o all melanomas, SSM is the most common type. SSM is most
requently diagnosed in the th, sixth, and seventh decades o li e and is most commonly ound on the legs o
emales and the trunk o males. Nodular melanoma accounts or approximately 15% to 30% o all melanomas
and is the second most common type o cutaneous melanoma in light-skinned individuals. Lentigo maligna
melanoma makes up approximately 10% o all melanomas and is ound most commonly on the ace. Nevoid and
Spitzoid melanomas are uncommon variants o melanoma.

What are the recommended surgical margins or melanoma in situ (MIS)?
NCCN guidelines or resection margins or MIS recommend a measured margin o 0.5 to 1 cm around the clinically
visible lesion. T ey state that certain types o MIS, or example, lentigo maligna melanoma, may require resection
margins beyond 5 mm. No de nitive resection recommendations beyond the current recommendations o 5 mm
have been given. Published recurrence rates or wide local excision (WLE) in the literature range rom 8% to 20%.
Despite this, WLE remains the gold standard treatment or MIS although a number o published stage excision
protocols have shown recurrence rates ranging rom 0% to 7.3%.

What are the recommended surgical resection margins or a 2.1 mm thick primary cutaneous melanoma?
2.0 cm.
T e current recommended margins or surgical resection o primary melanoma:
Melanoma in situ

0.5–1.0 cm
Less than 1.0 mm thick

1.0 cm
1.0–2.0 mm thick

1.0–2.0 cm
Greater than 2.0 mm thick

2.0 cm

What is the overall rate o local recurrence ollowing surgical excision o melanoma with appropriate margins?
T e rate o local recurrence approaches 4%.

What are the current recommended surgical resection margins or recurrent or in transit melanoma?
rue local scar recurrence, which most likely represents locally persistent disease a ter inadequate initial excision, is
treated similarly to the primary tumor. Following con rmatory biopsy, re-excision to the appropriate margins based
on Breslow thickness is recommended. In contrast, there are no de nitive data to guide management at this time or
local recurrences (de ned as regrowth within 2 cm o the surgical scar a ter de nitive excision) or disease in transit
(any skin or subcutaneous metastases that are > 2 cm rom the primary lesion and distal to the regional nodal basin).
T ese lesions (local recurrence and in transit disease) are thought to represent dermal lymphatic disease and impart
a prognosis similar to regional nodal disease; whereas, there are no conclusive data that true local scar recurrence
negatively a ects outcome. National Cancer Comprehensive Network (NCCN) guidelines recommend complete
surgical excision to clear margins i easible.

What are the indications or sentinel lymph node biopsy in melanoma patients?
1. Patients with lesion thickness greater than 1.0 mm and no evidence o metastatic disease nor clinical lymph
node involvement should be o ered SLNB.
2. SLNB should be discussed and o ered to patient’s with lesions that are 0.76 to 1.0 mm thick with either
ulceration or mitotic rate ≥1 per mm2.

CHAPTER 58 Malignant Melanoma: Basis and reatment
569
T e 2015 NCCN guidelines state that in general, SLNB is not recommended or lesions 0.75 mm or less,
regardless o other characteristics. It does state, however, that in the rare event that a high-risk eature is present
(e.g., ulceration, high mitotic rate, and/or lymphovascular invasion), the decision to per orm an SLNB should be
le t to the physician and patient.
3. Patient request. T is is highly controversial due to the lack o de nitive guidelines regarding the use o sentinel
lymph node biopsy in melanoma. Patients must be aware o the complication rate o sentinel node biopsy
(approximately 6%) in comparison to their chance o having a positive node (between 5% and 8% in patients
with melanomas less than 1.0 mm thick).

Assign the ollowing primary melanoma lesions with the corresponding American Joint Committee on
Cancer (AJCC) stage.
1. 0.76 mm thick lesion, with evidence o ulceration, no clinical LAD
2. 2.2 mm thick lesion, no evidence o ulceration, no clinical LAD
3. 2.9 mm thick lesion, no ulceration, one clinically enlarged lymph node, that is con rmed positive on
lymphadenectomy
4. 3.1 mm thick lesion, no ulceration, positive SLNB, positive metastasis in the liver
5. 0.56 mm thick lesion, no evidence o ulceration, no clinical LAD
T e current AJCC staging system is set up such that stages 1 and 2 represent local disease, stage 3 is regional
metastasis, and stage 4 is distant metastasis. Please see the chart below or the complete staging system.
Stage Tum or (T)

Nodes (N)

Metastasis (M)
IA
≤1.0 mm without ulceration and mitosis <1/mm 2
None

None
IB
≤1.0 mm with ulceration or mitosis ≥1/mm 2
1.01–2.0 mm without ulceration
None

None
IIA

1.01–2.0 mm with ulceration
2.01–4.0 mm without ulceration
None

None
IIB

2.01–4.0 mm with ulceration
> 4.0 mm without ulceration
None

None
IIC
> 4.0 mm with ulceration
None

None
IIIA

Any thickness without ulceration

1–3 micrometastatic

None
IIIB

1. Any thickness without ulceration
2. Any thickness with ulceration
3. Any thickness
1. 1–3 macrometastatic
2. 1–3 micrometastatic
3. 2–3 positive nodes
1. None
2. None
3. In transit/satellite
metastasis
IIIC

1. Any thickness with ulceration
2. Any thickness
1. 1–3 macrometastatic
2. Four or more positive
nodes or matted nodes
1. None
2. In transit/satellite
metastasis
IV

Any thickness

Any nodes

Distant metastasis
Answers: (1) IB, (2) IIA, (3) IIIB, (4) IV, and (5) IA.

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Plastic & Reconstructive Surgery Board Review

What are the estimated 5- and 10-year survival rates associated with the various stages o melanoma?
Stage
5-Year Survival Rate (%)

10-Year Survival Rate (%)
1A

97

95
1B

92

86
2A

81

67
2B

70

57
2C

53

40
3A

78

68
3B

59

43
3C

40

24
4a
15–20a
10–15a
aSurvival is higher if metastasis is to distant parts of the skin or lymph nodes rather
than internal organs or if the blood lactate dehydrogenase (LDH) is within normal limits.
T e above survival rates are observed (non–disease-related) survival rates. T ey include patients who have been
diagnosed with melanoma but may have died rom causes other than melanoma. T ese statistics may slightly
underestimate the percentage o people surviving melanoma.

What are some o the prognostic actors associated with melanoma?
BE ER PROGNOSIS WI H:
Age 65 years or younger
Female sex
Lesions on the extremity
T ickness less than 1.0 mm
Low mitotic rate
Presence o tumor-in ltrating lymphocytes*
Desmoplastic type*
Clark’s level 1, 2, 3
WORSE PROGNOSIS WI H HE PRESENCE OF:
Ulceration
umor vascular invasion
Microsatellite lesions
Regression*
Poor per ormance status (stage 4 disease)
Disease in lymph node basin
Distant metastasis (particularly pleural, GI, and liver or multiple sites)
*Uncertain or disputed importance within the literature.

CHAPTER 58 Malignant Melanoma: Basis and reatment
571

What are the common sites o melanoma distant metastasis?
Location

Estim ated Rates of Metastasis (%)
Skin, lymph nodes, subcutaneous tissue

42–59
Lungs

18–36
Liver

14–20
Brain

12–20
Bone

11–17
Gastrointestinal

1–7

What technique should be used to biopsy a lesion suspicious or cutaneous melanoma?
Ideally, a patient with a lesion suspicious or melanoma should have a narrow excisional biopsy. T is biopsy can
be per ormed with a variety o techniques (e.g., elliptical excision, punch biopsy, or saucerization). Whichever
technique is chosen, the goal is to achieve clinically negative lateral margins (usually 1- to 3-mm margins are
necessary to remove the subclinical component) and a depth that ensures that the lesion is not transected. T e
orientation o the excisional biopsy should be planned with de nitive treatment in mind (i.e., in a longitudinal
axis on the extremities). Full-thickness excisional biopsy is o ten regarded as the procedure o choice, as it is
generally accepted to produce the lowest transection rates. Nevertheless, punch biopsies and saucerization biopsies
are per ormed routinely by experienced clinicians when they can produce ull excision. In certain situations, an
excisional biopsy may be inappropriate (e.g., lesions on the ace, acral areas, or subungual lesions). In these cases,
ull-thickness incisional biopsy remains an acceptable option. Care must be taken when per orming incisional
biopsies to plan ahead or urther excision and should involve the thickest portion o the lesion.

What is the surgical management or metastatic melanoma to the lymph nodes identi ed clinically or on
sentinel node biopsy?
NCCN guidelines call or complete lymph node dissection in patients with positive sentinel lymph node biopsy
and those patients with stage 3 clinical disease.

What are the limits o a complete axillary node dissection?
Complete axillary lymph node dissection consists o the removal o all lymph node bearing tissue (zones 1, 2,
and 3) including tissue anterior, superior, posterior, and in erior to the axillary vessels.
T e limits o the complete axillary dissection are as ollows:
Superior: Subclavius muscle
In erior: Insertion o the thoracodorsal nerve into the latissimus muscle
Medial: First rib medial to the edge o the pectoralis minor muscle and including the tissue above the pectoralis
major and in between the pectoralis major and minor
Lateral: Edge o latissimus dorsi muscle

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Plastic & Reconstructive Surgery Board Review

What are the limits o a complete inguinal lymph node dissection?
Complete inguinal lymph node dissection consists o the removal o the super cial lymph node basin with dissection
and removal o the deep lymph node basin or metastasis o the Cloquet node or palpable deep node involvement.
T e limits o the complete inguinal dissection are as ollows:
Superior: 5 cm above the inguinal ligament
In erior: T e con uence o the sartorius and the adductor longus
Medial: T e adductor longus muscle and the pubic tubercle
In erior: T e sartorius muscle and the anterior superior iliac spine

How many lymph nodes does an axillary or inguinal lymph node dissection require in order to be complete?
Recent NCCN guidelines state that there is an insuf cient amount o data to determine the number o lymph
nodes required to deem a dissection complete. Complete dissections should be determined by anatomic
boundaries as listed above.

What is the most signi cant determining actor o melanoma clinical behavior?
Lesion thickness.

Can a sentinel node biopsy be per ormed a ter wide local excision?
Yes. Sentinel lymph node biopsy should be o ered i inadequate initial margins o resection are present. WLE o the
entire scar based on current recommended resection guidelines with a sentinel lymph node biopsy is the treatment
o choice. Multiple studies have shown that even though lymphatic channels may have been damaged during the
initial resection, SLN biopsy has equal predictive value compared to that having been done at the initial resection.

What percentage o melanoma patients have no identi able primary tumor?
2% to 6% o melanoma patients will have no identi able primary tumor. Five-year survival rate or these patients
has been estimated to be 83% in patients with in-transit metastasis (cutaneous or subcutaneous), 50% in patients
with metastasis in the lymph node basin, and 6% in patients with distant or disseminated disease.

What is the recommended ollow-up/surveillance or melanoma patients?
Stage History and Physical

Im aging

Laboratory Tests
0

Yearly

None

None
1

Every 6–12 months for 5 years,
then annually as indicated
Routine radiologic imaging for
asymptomatic individuals is not
recommended
Routine blood tests are
not recommended for
asymptomatic individuals
2A

Every 6–12 months for 5 years,
then annually as indicated
Routine radiologic imaging for
asymptomatic individuals is not
recommended
Routine blood tests are
not recommended for
asymptomatic individuals
2B/C
Every 3–6 months for 2 years,
then 3–12 months for 3 years,
then annually as indicated
Consider chest x-ray, CT, and/or
PET/CT every 4 to 12 months, and
annual brain MRI, for 5 years
Routine blood tests are
not recommended for
asymptomatic individuals
3

Every 3–6 months for 2 years,
then 3–12 months for 3 years,
then annually as indicated
Consider chest x-ray, CT, and/or
PET/CT every 4 to 12 months, and
annual brain MRI, for 5 years
Routine blood tests are
not recommended for
asymptomatic individuals
4

Individualized

Individualized

Individualized

CHAPTER 58 Malignant Melanoma: Basis and reatment
573

What is the dif erential diagnosis o a pigmented nailbed lesion?
Subungual hematoma, onychomycosis, rictional melanonychia, Coumadin-associated melanonychia,
melanonychia striata, junctional nevus, Addison’s disease, and Peutz–Jegher’s disease.

What are concerning symptoms o a pigmented nailbed lesion that should raise concern or subungual melanoma?
Irregular borders, ulceration, size increase, onycholysis, nail plate dystrophy, extension beyond nail bed into
proximal nail old (Hutchinson sign).

How long should you observe a pigmented nailbed lesion without concerning symptoms be ore biopsy?
3 to 4 weeks. I nail plate grows distally past pigmentation or concerning symptoms develop, per orm a
ull-thickness nailbed biopsy.

What are the current treatment recommendations or biopsy proven subungual melanoma?
Historically, amputation at the distal phalangeal joint has been the widely accepted treatment or subungual
melanoma. However, conclusive data to support this aggressive orm o treatment is lacking. Wide local excision,
especially or melanoma in situ, may be appropriate or some lesions. Further studies are needed.

What is the most common orm o malignant melanoma in black Americans?
Acral lentiginous melanoma (ALM) is the most common orm o malignant melanoma in black Americans.
ALM occurs on non–hair-bearing sur aces o the body, o ten not exposed to sunlight. It is most commonly on
the palms, soles, nailbeds, and oral mucosa. ALM is o ten misdiagnosed as a more benign process, and there ore
A rican Americans o ten present with late-stage disease leading to decreased survival times.

Where is the most common site or malignant melanoma in Asian populations?
Plantar sur ace o the oot. Acral lentiginous melanoma is also more common in this patient population.
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Balch CM, Gershenwald JE, Soong SJ, et al. Final version 2009 AJCC melanoma staging and classi cation. J Clin Oncol. 2009;
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Balch CM, Urist MM, Karakousis CP, et al. Ef cacy o 2-cm surgical margins or intermediate-thickness melanomas (1 to 4 mm).
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Bichakjian CK, Halpern AC, Johnson M, et al. Guidelines o care or the management o primary cutaneous melanoma. J Am Acad
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2014;134:259–273.
Coit DG, T ompson JA, Andtbacka R, et al. NCCN Clinical Practice Guidelines in Oncology: Melanoma. Version 3, 2015. Available at:
essionals/physician_gls/pd /melanoma.pd . Accessed March 15, 2015.

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Dzwierzynski WW. Complete lymph node dissection or regional nodal metastasis. Clin Plast Surg. 2010;37(1):113–125.
Farma JM, Kulkarni N, Hsu C. Surgical management o primary and recurrent melanoma. Surg Oncol Clin N Am. 2015;24(2):239–247.
Finley RK 3rd, Driscoll DL, Blumenson LE, Karakousis CP. Subungual melanoma: an eighteen-year review. Surgery. 1994;116:96–100.
Garbe C, Bauer J. Melanoma. In: Bolongnia JL, Jorrizo JL, Scha er JV, eds. Vol 2. 3rd ed. Dermatology. Philadelphia, PA: Elsevier; 2012:
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Heaton KM, el-Naggar A, Ensign LG, Ross MI, Balch CM. Surgical management and prognostic actors in patients with subungual
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Homsi J, Kashani-Sabet M, Messina JL, Daud A. Cutaneous melanoma: prognostic actors. Cancer Control. 2005;12(4):223–229.
Kelemen PR, Essner R, Foshag LJ, Morton DL. Lymphatic mapping and sentinel lymphadenectomy a ter wide local excision o primary
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Larson DL, Larson JD. Head and neck melanoma. Clin Plast Surg. 2010;37(1):73–77.
Leong SP, T elmo MC, Kim RP, et al. Delayed harvesting o sentinel lymph nodes a ter previous wide local excision o extremity
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Swetter SM, Boldrick JC, Jung SY, Egbert BM, Harvell JD. Increasing incidence o lentigo maligna melanoma subtypes: northern
Cali ornia and national trends 1990–2000. J Invest Dermatol. 2005;125:685–691.
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Melanoma. Sydney, Australia: Melanoma Research; 1997:S105.

PEDIATRICS
Section VI

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577
Nicholas Do, MD and
John N. Jensen, MD

In which gene is the mutation responsible or Saethre–Chotzen syndrome?
TWIST (p21–p22).

How many subtypes o P ei er syndrome are documented?
T ree:
ype 1—craniosynostosis, broad thumb/toes, normal or near-normal intelligence (classic orm)
ype 2—cloverlea skull, severe CNS involvement, elbow synostosis, early death
ype 3—like type 2 without cloverlea skull; poor prognosis

What mutations are associated with P ei er syndrome?
FGFR1 (8p11.22–p12) and FGFR2 (10q25–q26); FGFR1 mutations associated with less severe extremity
involvement.

What mutation is associated with Apert syndrome?
FGFR2 (10q25–q26).

What mutation is associated with Crouzon syndrome?
FGFR2 (10q25–q26).

What is the mutation associated with the variant o Crouzon syndrome that includes acanthosis nigricans?
Ala391Glu substitution o the FGFR3 (4p) gene.

What is the mutation associated with Muenke syndrome?
Point mutation o FGFR3 (4p) gene.

Which o the craniosynostosis syndromes ollows an autosomal recessive pattern o inheritance?
Carpenter syndrome.
Craniofacial Syndromes
CHAPTER 59

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Plastic & Reconstructive Surgery Board Review

Which o the craniosynostosis syndromes ollows an X-linked pattern o inheritance?
Cranio rontonasal dysplasia.

What is the purported mechanism o FGF receptor mutations in craniosynostosis syndromes?
Gain o unction.

What is Kleeblattschädel?
Cloverlea skull, or pancraniosynostosis (except squamosal).

Which o the craniosynostosis syndromes is unique in that almost all mutations are one o the two speci c
substitution mutations on FGFR2?
Apert syndrome.

What is the Pierre Robin sequence?
Retrognathia, glossoptosis, airway obstruction.

What is the classic cle t morphology characteristic o the Robin sequence?
Wide, U-shaped cle t.

What are the most commonly associated anomalies in cle ting syndromes?
Club oot, cardiac anomalies.

Which cle t-associated syndrome has as its hallmark eature lip pits?
Van der Woude syndrome; hypodontia also a eature.

What is the pattern o inheritance or van der Woude syndrome?
Autosomal dominant but with variable penetrance.

Which gene contains the mutation or van der Woude syndrome?
Inter eron regulatory actor 6 (IRF6) on chromosome 1.

Which cle t-associated syndrome is associated with progressive blindness?
Stickler syndrome.

How many syndromes have been described to include cle t lip and/or palate?
More than 300.

What syndrome has malar hypoplasia and variable thumb and upper extremity hypoplasia?
Nager syndrome.

What is the inheritance pattern o Treacher–Collins syndrome?
Autosomal dominant.

CHAPTER 59 Cranio acial Syndromes
579

What is the genetic mutation in Treacher–Collins syndrome?
TCOF1 (5q31.3–32).

Which nerves are involved in Moebius sequence?
CN VI and VII.

How is the genetic de ect common to Velocardio acial, DiGeorge, and Conotruncal Anomaly Face
syndromes identi ed?
FISH ( uorescent in situ hybridization) detection o the 22q11 deletion.

What are the clinical ndings associated with 22q11.2 deletion?
Developmental disabilities, learning disabilities, or both; conotruncal cardiac anomalies, palatal de ects, nasal
regurgitation, and/or hypernasal speech; behavioral problems, psychiatric illness, or both; immunode ciency;
hypocalcemia; and characteristic elongated acial eatures.

What electrolyte abnormality can complicate the post op course o a 22q11.2 deletion patient?
Hypocalcemia can occur postoperatively and thus a serum calcium concentration should be checked in the rst
6 hours a ter surgery.

Is cle ting the most common mechanism o velopharyngeal dys unction in velocardio acial syndrome?
No, VPD occurs commonly without cle ting in these patients.

Which syndrome is most likely to be present in a patient with Pierre Robin sequence?
Stickler syndrome.

What does the OMENS classi cation system describe?
Severity o cranio acial microsomia by anatomic divisions:
O—orbit
M—mandible
E—ear
N—nerve
S—so t tissue

What eatures distinguish Goldenhar syndrome rom cranio acial microsomia?
Epibulbar dermoids and vertebral abnormalities.

What is Virchow’s principle?
Cranial bone normally grows perpendicular to cranial sutures.

Which o the cranio acial syndromes o ten demonstrate critical airway instability at birth?
Robin sequence, reacher–Collins, and bilateral cranio acial microsomia.

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Plastic & Reconstructive Surgery Board Review

What treatment modalities have been described or the newborn with Robin sequence and airway obstruction?
Positioning, NP airway, tongue–lip adhesion, mandibular distraction, tracheostomy.

What disease process has associated with the coup de sabre de ormity?
Romberg disease, or progressive hemi acial atrophy.

When does Romberg disease usually present?
First two decades.

On a plain PA radiograph, what does the harlequin sign indicate?
Superiorly displaced lesser wing o the sphenoid, usually associated with unicoronal synostosis.

What tests are commonly used to assess airway obstruction in neonates with suspected airway obstruction?
Laryngoscopy, bronchoscopy, and polysomnography (sleep study).

What are the contraindications or tongue–lip adhesion or mandibular distraction in the Robin sequence?
Subglottic obstruction.

What is the rationale or avoiding distraction o the hypoplastic mandible in Robin sequence?
“Catch up” growth eventually occurs.

What is the presumed mechanism or neurocognitive maldevelopment in syndromic synostosis?
Increased intracranial pressure; probably present in ewer than hal o the af ected patients.

What methods are used to assess increased intracranial pressure?
Direct pressure monitoring with invasive probe; C ndings and papilledema are less reliable/predictive.

Aside rom craniosynostosis, what considerations must be made or patients with Apert, Crouzon, and
P ei er syndromes?
Airway, exposure keratopathy, occlusal relationship.

How has management o mid ace hypoplasia in Apert, Crouzon, and P ei er syndromes evolved?
Le Fort III distraction in childhood, now standard in most centers.

In velocardio acial syndrome, what consideration is made prior to surgical correction o velopharyngeal
dys unction?
T e possibility o medially deviated internal carotid arteries; unlikely in the absence o clinical signs on
nasoendoscopy and physical examination, but MRA is de nitive test.

In common usage, hemi acial microsomia re ers to a spectrum o disorders; what other terms are used?
Cranio acial microsomia, oculo-auriculo–vertebral spectrum, rst and second branchial arch syndromes, and
Goldenhar syndrome.

CHAPTER 59 Cranio acial Syndromes
581

What does the literature suggest about the ef cacy o cranial expansion in craniosynostosis on
neurocognitive development?
Its bene t is questionable.

A ter Tessier cle t 7 (macrostomia), what is the most common atypical acial cle t?
essier 3/11.

What are the commonly encountered diagnoses associated with hypertelorism?
Encephalocoele, rontonasal dysplasia, atypical acial cle ting, Crouzon syndrome, bilateral cle t lip/palate.

How is hypertelorism classi ed?
Intraocular distance ( essier):
ype 1 (mild): 30–34 mm
ype 2 (moderate): 35–39 mm
ype 3 (severe): ≥40 mm

Which o the cranial sutures is the only one normally to undergo usion be ore the brain stops growing?
Metopic suture.

Match the skull morphology to corresponding sutural synostosis.
Scaphocephaly—sagittal synostosis
rigonocephaly—metopic synostosis
Plagiocephaly, anterior—unicoronal synostosis
Plagiocephaly, posterior—lambdoid synostosis
Brachycephaly—bicoronal synostosis

What is the average cephalic index in normal adult Caucasians?
0.78.

How is the cephalic (or cranial) index de ned?
Eurion–eurion distance/glabella–opisthocranion distance × 100.

In unicoronal synostosis, in which direction is the nasal root deviated?
T e af ected side (toward used suture).

What are the anatomic eatures seen in lambdoid synostosis, but not in de ormational plagiocephaly?
Ipsilateral mastoid bulge, trapezoid shape.

What is the pathognomonic nding in Binder syndrome?
Absent anterior nasal spine.

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Plastic & Reconstructive Surgery Board Review

Some de ne the Treacher–Collins cranio acial de ormity in terms o which o the atypical acial cle ts?
essier 6, 7, 8.

What is PHACE syndrome?
Posterior ossa, Hemangioma, Arterial anomalies, Cardiac de ects, Eye anomalies. T is condition should be
suspected when patients present with a large segmental hemangioma o the ace.

What study should be obtained when a patient presents with a large segmental hemangioma, especially o
the ace in the trigeminal nerve distribution?
Magnetic resonance angiography (MRA) o the brain to rule out ipsilateral cerebral artery anomalies.

What is CHARGE association?
CHARGE (Coloboma o the eye, Heart de ects, Atresia o the nasal choanae, Retardation o growth and/or
development, Genital and/or urinary abnormalities, and Ear abnormalities and dea ness) syndrome.

What study should be conducted or a patient presenting with an ear anomaly associated with syndromic
appearing acial eatures?
Renal ultrasound should be ordered to rule out structural renal anomalies as there is a higher incidence in
syndromes associated with ear de ormities (CHARGE syndrome, ownes–Brocks syndrome, branchio-oto-renal
syndrome, Nager syndrome, Miller syndrome, and diabetic embryopathy).
REFERENCES
Bassett AS, McDonald-McGinn DM, Devriendt K, et al; International 22q11.2 Deletion Syndrome Consortium. Practical guidelines
or managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332–339.
Blake KD, Davenport SL, Hall BD, et al. CHARGE association: an update and review or the primary pediatrician. Clin Pediatr (Phila).
1998;37(3):159–173.
Bradley JP, Hurwitz DJ, Carstens MH. Embryology, classi cations, and descriptions o cranio acial cle ts. In: Mathes SJ, ed. Plastic
Surgery. 2nd ed. Philadelphia, PA: Saunders Elsevier; 2006.
Farkas LG, ed. Anthropometry of the Head and Face. 2nd ed. New York, NY: Raven; 1994.
Jones KL. Smith’s Recognizable Patterns of Human Malformation. 6th ed. Philadelphia, PA: Elsevier Saunders; 2006.
Lam AK, David DJ, ownsend GC, Anderson PJ. Van der Woude syndrome: dento acial eatures and implications or clinical practice.
Aust Dent J. 2010;55(1):51–58.
McCarthy JG, Hopper RA, Grayson, BH. Cranio acial microsomia. In: Mathes SJ, ed. Plastic Surgery. 2nd ed. Philadelphia, PA:
Saunders Elsevier; 2006.
Metry DW, Haggstrom AN, Drolet BA, et al. A prospective study o PHACE syndrome in in antile hemangiomas: demographic
eatures, clinical ndings, and complications. Am J Med Genet A. 2006;140(9):975–986.
Shen L, Gu H, Wang D, et al. In uence o chromosome 22q11.2 microdeletion on postoperative calcium level a ter cardiac-correction
surgery. Pediatr Cardiol. 2011;32(7):904–909.
Stuppia L, Capogreco M, Marzo G, et al. Genetics o syndromic and nonsyndromic cle t lip and palate. J Craniofac Surg. 2011;22(5):
1722–1726.
Vander Kolk CA, Menezes J. Cranio acial syndromes. In: Mathes SJ, ed. Plastic Surgery. 2nd ed. Philadelphia, PA: Saunders Elsevier;
2006.
Wilkie AOM. Molecular genetics o craniosynostosis. In: Lin KY, Ogle RC, Jane JA, eds. Craniofacial Surgery: Science & Surgical
Technique. Philadelphia, PA: WB Saunders; 2002.

583
Pieter G.L. Koolen, MD and
Samuel J. Lin, MD, MBA, FACS

What is the incidence o craniosynostosis?
1 in 2,000 births.

True/False: Facial sutures use be ore cranial sutures.
False.

When do the acial sutures use?
Facial sutures (except or the midpalatal suture) use in the seventh decade. Suture—time o usion:
rontonasal—68 years, rontozygomatic—72 years.

When do the cranial sutures use?
Cranial sutures use earlier than the acial sutures.
Suture— ime o usion: metopic—2 years (may persist throughout li e in 10%), sagittal—22 years,
coronal—24 years, lambdoid—26 years, palatal—30 to 35 years.

What is the pattern o cranial suture usion?
Front to back, lateral to medial.

What is the unction o cranial and acial sutures?
Cranial: Bone overlap during birth, principal site o skull expansion, and shock-absorbing unction in childhood.
Facial: Shock-absorbing unction related to mastication.

What is Moss’s unctional matrix theory?
Cranial bones enlarge as a result o growth and expansion o the underlying brain.
Craniosynostosis
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What role may osteoblast-derived growth actors have in craniosynostosis?
In vitro studies o craniosynostotic bone cells reveal a longer population doubling time, which suggests that
suppression o osteoblastic-derived growth actors (IGF-I, IGF-II, GF-b1, PDGF, and bFGF) may be a actor.

What is the genetic abnormality o Crouzon, Apert, and Jackson–Weiss syndromes?
Chromosome 10, mutation o broblast growth actor receptor 2 gene.

What is the genetic abnormality o P ei er syndrome?
Chromosomes 8 and 10, mutation o the broblast growth actor receptor 1 or 2 gene.

Which orm o suture synostosis has an increased requency o mutation in the genetic loci or f broblast
growth actor receptor 3 (FGFR-3)?
Coronal.

What is the genetic transmission o Saethre Chotzen, Crouzon, Apert, and P ei er syndromes?
Autosomal dominant.

What is the genetic transmission o Carpenter and Baller–Gerhold syndromes?
Autosomal recessive.

What is the cause o contralateral rontal bone bossing and bilateral temporal bulges in coronal suture
craniosynostosis?
Bone growth occurs at the perimeter sutures with increased bone deposition directed away rom the abnormally
used bone plate.

True/False: Virchow (1851) noted that skull growth is inhibited parallel to the synostosed suture.
False (inhibited perpendicular, compensatory expansion parallel).

What are the three types o orehead plagiocephaly (asymmetry o the head)?
Synostotic plagiocephaly, compensational plagiocephaly, de ormational plagiocephaly.

What is the incidence o synostotic orehead plagiocephaly?
1 in 10,000 live births.

True/False: 79% o synostotic orehead plagiocephaly occurs in emales.
rue.

What are the distinguishing eatures o synostotic orehead plagiocephaly?
• Forehead at on a ected side.
• Eyebrow elevated on a ected side.
• Ear on a ected side rotated anterior-superiorly.
• Face C-shaped with nose and chin deviated to opposite side.
• Forehead prominence opposite side.
• Ipsilateral cheek orward.

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What is the cause o head tilting in uncorrected unilateral synostosis?
Strabismus secondary to paresis o the ipsilateral superior oblique muscle.

What are the radiographic eatures o synostotic orehead plagiocephaly?
• Radiographs—perisutural sclerosis, absence o coronal suture, harlequin mask appearance o orbit.
• 3D C scan— used suture, extent o skull, and acial de ormity.

What percentage o patients with synostotic orehead plagiocephaly have torticollis?
14%, usually contralateral side.

What is the cause o compensational plagiocephaly?
Premature usion o the contralateral lambdoid suture. Uncommon condition, used suture revealed on
radiographs. Clinical distinguishing actor rom de ormational plagiocephaly, no improvement on ollow-up.

What are the causes o de ormational plagiocephaly?
Compressive orces in utero, by birth trauma and postnatal de ormation by laying too much on one side.

What is the incidence o de ormational orehead plagiocephaly?
1 in 300 live births.

What are the distinguishing eatures o de ormational plagiocephaly?
• Superior orbital rim lower on the a ected side.
• Eyebrow down.
• Ear rotated posterior-in eriorly on the attened side.
• Malar eminence attened ipsilaterally.
• Nose and chin rotated to a ected side.
• De ormity not as severe as in synostosis.

What are the radiographic f ndings?
Patent sutures.

True/False: Torticollis is most commonly ipsilateral in de ormational orehead plagiocephaly.
rue.

True/False: Unlike synostotic orehead plagiocephaly, 76% o patients are male in de ormational orehead
plagiocephaly.
False.

True/False: On ollow-up examination, physical f ndings in de ormational plagiocephaly do not improve.
False.

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What is the cause o brachycephaly?
Bilateral coronal suture craniosynostosis.

What are the clinical eatures o brachycephaly?
Reduced anterior–posterior distance, increased bitemporal distance.

What is the normal ratio o anterior–posterior to bitemporal distance? What is the ratio in brachycephaly?
3:2, 1:1.

What are the radiographic f ndings o brachycephaly?
• X-ray—bilateral used coronal sutures and harlequin mask appearance.
• C scan— used sutures, abnormal shape o rontal bone.
• 3D C scan—receding supraorbital borders, compensatory bulging o upper orehead.

What is the cause o trigonocephaly?
Metopic suture craniosynostosis.

What are the clinical eatures o trigonocephaly?
riangular orehead with bilateral recession o lateral supraorbital borders and hypotelorism.

What are the radiographic f ndings o trigonocephaly?
• X-ray—hypotelorism.
• C scan—triangular-shaped orehead.
• 3D C scan—altered shape o orehead.

Which orm o synostosis is most requently associated with abnormalities o the corpus callosum and
increased incidence o developmental delay?
Metopic synostosis, trigonocephaly.

What is the cause o scaphocephaly?
Sagittal suture craniosynostosis.

True/False: Scaphocephaly is the most common orm o craniosynostosis, more than 50% o cases.
rue.

What are the clinical eatures o scaphocephaly?
Dolichocephalic (scaphocephalic) cranial shape with biparietal narrowing and o ten rontal and/or occipital
bossing. Palpable midline ridge. T e cranial vault is long and narrow with a low posterior vault. Apex o the vault
is anterior whereas under normal circumstances it is posterior.

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What percentage o patients also have lambdoid synostosis?
5% to 10%.
Clinical ndings— oreshortening o skull in occipital region with prominent rontal bossing.

What is the incidence o lambdoid suture craniosynostosis?
1% to 5% o all craniosynostosis cases. Much less common than de ormational posterior plagiocephaly.

What are the clinical eatures o lambdoid craniosynostosis?
Flatness on one or both sides o the posterior skull, posterior rotation o ipsilateral ear, compensatory atness on
contralateral rontal area—brachycephaly.

What are the radiographic f ndings?
Extensive sclerosis along the suture line dif cult to distinguish rom the mild sclerosis o de ormational
plagiocephaly.

What is Kleeblattschädel (cloverlea skull)?
It is the most severe orm o craniosynostosis, usion o the coronal, lambdoid, and metopic sutures. Anterior
sagittal and squamosal sutures are open.

What are the clinical eatures o Kleeblattschädel?
• Bulging o rontal and temporal bones.
• Markedly receding supraorbital borders.
• Severe exorbitism.
• Skull circum erence signi cantly reduced.
• Hydrocephalus usually present.

What are some o the congenital anomalies that may be associated with Kleeblattschädel?
• Choanal atresia
• High-arched palate
• Cle t palate

What are the ocular complications seen in Kleeblattschädel?
Because o retraction o the eyelids behind the globe, corneal opacity and per orations may occur i surgery is
delayed.

Which craniosynostosis syndrome is commonly associated with Kleeblattschädel?
P ei er syndrome.

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Plastic & Reconstructive Surgery Board Review

What is cranioscoliosis?
Curvature o the midline o the cranio acial skeleton without usion o sutures or torticollis or neck de ormities.
Diagnosis o exclusion.

What are the eatures o Saethre–Chotzen syndrome (craniocephalosyndactyly)?
• Bilateral coronal synostosis
• Brachycephaly
• Ptosis
• Maxillary hypoplasia
• Low hair line
• Prominent ear crus along concha
• Strabismus
• Cle t or high arched palate
• Syndactyly
• Brachydactyly or clinodactyly
• Vertebral anomalies
• Normal intelligence

What are the eatures o Crouzon syndrome (cranio acial dysostosis)?
Bilateral coronal synostosis
• Oxycephaly (high, wide orehead, bulging anterior ontanelle)
• Cranial base synostosis, hypertelorism
• Exophthalmos
• Maxillary hypoplasia
• Parrot beak nose
• Micrognathia
• No hand or eet abnormality

What are the eatures o Apert syndrome (acrocephalosyndactyly)?
• Skull: Bilateral coronal synostosis, brachycephaly.
• Maxillary hypoplasia: High-arched palate, cle t palate or submucosal cle t palate, crowding dental arch, anterior
open bite.
• Orbit: Hypertelorism, exorbitism, oculomotor paralysis, ptosis, down-slanting palpebral ssure.
• Hands: Syndactyly all ngers (mitten hands), short humerus.
• Feet: Syndactyly all toes.
• Coarse skin and acne.
• Enlarged ear lobes.
• Mental retardation: Variable.

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589

What are the eatures o Carpenter syndrome (group o acrocephalosyndactyly)?
• Craniosynostosis single or multiple sutures
• Dea ness
• Mental retardation
• Brachydactyly (hands and eet)
• Syndactyly (hands and eet)
• Polydactyly (hands, preaxial)

What is the incidence o Crouzon and Apert syndromes?
1 in 60,000 and 16 per million births, respectively.

What are the clinical eatures o P ei er syndrome?
• Craniosynostosis
• Wide thumbs and great toes
• Brachydactyly
• Partial syndactyly
• Maxillary hypoplasia
• Intelligence usually normal

What is Jackson–Weiss syndrome?
• Craniosynostosis
• Hypertelorism
• Mid ace hypoplasia
• Broad great toes
• Syndactyly toes (occasionally ngers)
• Medial deviation tarsal–metatarsal coalescence

What is Baller–Gerhold syndrome?
• Craniosynostosis
• Radial aplasia
• Anal anomalies
• Urologic de ects
• Cardiac de ormity
• CNS abnormalities
• Vertebral de ects

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Plastic & Reconstructive Surgery Board Review

What is Antley–Bixler syndrome?
• Craniosynostosis (brachycephaly, rontal bossing, large anterior ontanelle)
• Mid acial hypoplasia
• Depressed nasal bridge
• Proptosis
• Choanal stenosis and/or atresia
• Dysplastic ears
• Radiohumeral synostosis
• Joint contractures (upper and lower extremities)
• Arachnodactyly
• Renal de ects
• High incidence o respiratory compromise

What is the timing o surgery in Kleeblattschädel (cloverlea de ormity)?
Kleeblattschädel: First ew days o li e, urgent decompression is needed to decrease intracranial pressure as well as
ronto-orbital advancement and tarsorrhaphy or ocular protection.

What is the general timing o surgical intervention or any orm o single-suture craniosynostosis?
Endoscopic approaches and strip craniectomies may be per ormed as early as 2 to 3 months o age and generally
require helmeting or up to 1 year postoperation.
Fronto-orbital advancement and/or total vault reconstruction is generally undertaken at 6 months o age or later,
but can be done as early as 3 months o age. Helmeting is only needed in ambulating patients or up to 1 to
2 months i required.

What principles guide the timing o surgical correction or craniosynostosis?
Osteogenetic potential o the dura is greatest under 18 months o age; gaps a ter reconstruction are well tolerated
because the dura will ll them with new bone. T is osteogenic potential o the dura is generally lost a ter 2 years o
age.
T e cranial bone is more malleable at an early age. It becomes substantially more brittle and more dif cult to
shape a ter the age o 18 months making good aesthetic outcomes more dif cult to attain.
Surgical blood loss is much less in the younger age groups making surgery sa er in patients younger than 18
months.
By operating early it is believed by some that the rapid brain growth will help to guide and maintain the head
shape a ter surgery.
T e best window or operation is between 3 and 12 months o age or decreased surgical morbidity and optimized
surgical outcomes.

What is the risk o increased intracranial pressure and adverse e ect on mental development in synostosis o
one suture?
7% chance, risk increases with multiple sutures.

True/False: Cosmetic appearance is the primary actor or operative intervention in craniosynostosis.
False.

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What are the goals o therapy in craniosynostosis?
• Release the synostosis and provide adequate skull volume or brain development.
• Create an aesthetically normal orehead and skull shape.
• It is still quite controversial whether surgical intervention improves developmental outcomes. Current literature
seems to suggest that it does not, except in the case o symptomatic, increase intracranial pressure.

What are the interventions or de ormational plagiocephaly?
• Sternomastoid stretching exercises or torticollis
• ummy time
• Avoid extensive periods o time spent in car seats
• Increase amount o time spent carrying the child
• At eeding times baby encouraged to turn head toward breast or bottle
• Orthotic cranioplasty—helmet to mold skull as it grows

At what age is orthotic cranioplasty e ective and what is the time course o therapy?
Molding can be begun as early as 4 months o age. It is not e ective a ter 18 months o age. Helmet is worn
23 hours a day or 2 to 4 months. Inadequate response may require surgical intervention in severe cases.
Outcomes are best with early application.

What is the surgical management o unilateral coronal suture synostosis?
Unilateral (mild de ormity) or bilateral (severe de ormity) ronto-orbital advancement.

What is the determining actor in the surgical management o bilateral coronal suture synostosis?
Presence o concomitant brachycephaly.

What is the surgical management o bilateral coronal suture synostosis?
Bilateral ronto-orbital advancement in patients without brachycephaly. otal calvarial reconstruction with barrel
staving o occipital bones in patients with brachycephaly.

What is the surgical management o metopic synostosis?
Fronto-orbital advancement by removal o supraorbital bar, corticotomy, and correction o midline angle to
150 degrees with bone gra t or miniplates. Correction o coronal synostosis. Examination o metopic suture and
release. Hypotelorism corrects with growth.

What is the primary determinant in the choice o operation or patients with sagittal synostosis?
Patient age ollowed by previous intervention. Procedures are most e ective and less extensive in younger patients
less than 6 months. Ideal age is 2 to 4 months. More extensive procedures are needed at age 6 to 9 months. In
children older than 1 year even more extensive procedures are needed and morbidity increases signi cantly due to
increased blood loss.

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Plastic & Reconstructive Surgery Board Review

What are the standard surgical interventions or sagittal synostosis?
T e “pi” or “t” craniectomy techniques (or modi cations thereo ) that utilize strip craniectomies with partial
wedge osteotomies. In selected cases with more severe de ormity ( rontal and occipital bossing), anterior and
posterior parietal wedges or barrel-stave osteotomies to acilitate biparietal expansion. otal calvarial reconstruction
may be used in children older than 1 year or reoperations, may require bone replacement.
Early strip craniectomy by open or endoscopic technique with helmeting.

What is the Melbourne technique?
T is is a new surgical technique o total vault reconstruction generally applied to the complete correction o
severe scaphocephaly. ony Holmes o the Royal Children’s Hospital (RCH) in Melbourne, Australia, developed
this technique. It can also be used or cranial expansion. Fronto-orbital advancement can be easily added to the
technique.

What aspects o the scaphocephalic de ormity are addressed by the Melbourne technique?
T e surgical goals o the Melbourne technique are the correction o rontal bossing, reduction o orehead height,
correction o biparietal narrowing, anterior advancement o the occiput, elevation o posterior vault, and cranial
expansion or increased intracranial volume. T e Melbourne technique or total vault reconstruction developed at
the RCH cranio acial unit addresses all o these reconstructive parameters.

What is the major risk o surgical management o sagittal synostosis?
Sagittal sinus injury with blood loss or venous in arction.

What is the disadvantage o simple suture removal?
Immediate correction o cranial shape is not achieved, many patients have residual de ormity secondary to suture
reclosure be ore adequate cranial remodeling.

What is the advantage o early operation in sagittal synostosis?
High potential or new bone growth, quicker operative options with less blood loss, continued brain growth
or skull expansion, and increased skull exibility or easier remodeling. Strip craniectomies are more e ective i
per ormed early, under 3 months o age, but require helmeting or continued molding.

How long does it take or bone de ects to f ll in?
Approximately 6 months.

What is the rate o reoperation, what are the outcomes?
Less than 5% reoperation. More than 90% excellent cosmetic results, the remaining good cosmetic results.
T is varies by type o craniosynostosis, severity o disease, and whether it is a syndromic or nonsyndromic case.
Outcomes tend to be better in nonsyndromic (single suture) synostosis.

What is the surgical management o lambdoidal synostosis?
Under age 6 months excision o lambdoid suture. Over age 6 months posterior skull remodeling with occipital
bandeau, barrel staving o bone below the bandeau, and bending with essier bone bender. Alternate method:
spiral osteotomy.

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What is the preoperative management o Kleeblattschädel?
• Management o more serious medical problems.
• Airway management.
• Eye protection—arti cial tears, ophthalmic ointment.
• R/O cervical spine and craniovertebral anomalies.
• Radiologic workup 3D C scans.

What is the indication or emergent management Kleeblattschädel?
• Management o hydrocephalus.
• VP shunt may be indicated at the same time or at a subsequent procedure.
• Ocular compromise.

What is the operative management o Kleeblattschädel?
Anterior calvariectomy with ronto-orbital advancement. Bone removal rom constricting band o coronal,
rontosphenoid, rontoethmoid, and lambdoid sutures. otal calvarial reconstruction may be indicated.

Will urther intervention be needed?
In severe cases a second-stage posterior calvarial release is necessary at 1 to 2 months o age. A second anterior
surgical release is o ten required at 6 to 12 months. A third correction o anterior and/or posterior skull
de ormities again be ore age 4.

What are some o the potential operative and early postoperative complications o craniosynostosis cases?
• Death
• Anesthetic complications
• Excessive blood loss
• Sagittal sinus tear with venous in arction
• Cerebral edema
• Increased ICP
• Subdural hematoma
• Periorbital injury
• Nerve injury ( rontal branch VII, supraorbital nerve)
• Loss o vision
• Corneal abrasion
• CSF leak via dural tear
• In ection
• Skin necrosis
• SIADH

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Plastic & Reconstructive Surgery Board Review

What are some o the late postoperative complications o craniosynostosis operations?
• Alopecia
• Hypertrophic scarring
• Palpable hardware
• Forehead de ects and irregularities
• De cient rontal bone advancement
• emporal depression
• Pseudomeningoceles
• Metal plates
• Orbital de ormities
• Asymmetry
• Recurrence
• Bone gra t resorption
• Increased ICP
• Patient dissatis action
REFERENCES
Anderson FM, Geiger L. Craniosynostosis: a survey o 204 cases. J Neurosurg. 1965;22:229–240.
Bruneteau RJ, Mulliken JB. Frontal plagiocephaly: synostotic, compensational, or de ormational. Plast Reconstr Surg. 1992;89:21–31.
Cassileth LB, Bartlett SP, Glat PM, et al. Clinical characteristics o patients with unicoronal synostosis and mutations o broblast
growth actor receptor 3: a preliminary report. Plast Reconstr Surg. 2001;108:1849–1854.
David DJ, Poswillo D, Simpson DA. T e Craniosynostosis; Causes, Natural History and Management. New York, NY: Springer-Verlag;
1982.
Delashaw JB, Persing JA, Broaddus WC, Jane JA. Cranial vault growth in craniosynostosis. J Neurosurg. 1989;70:159–165.
Fearon JA, Munro IR. Cranioscoliosis. Plast Reconstr Surg. 1993;92:202–208.
Gosain AK, Steele MA, McCarthy JG, T orne CH. A prospective study o the relationship between strabismus and head posture in
patients with rontal plagiocephaly. Plast Reconstr Surg. 1996;97:881–891.
Greensmith AL, Holmes, AD, Lo, P, Maxiner W, Heggie A, Meara JG. Complete correction o severe scaphocephaly: the Melbourne
method o total vault remodeling. Plast Reconstr Surg. 2008;121(4):1300–1310.
Hinton DR, Becker LE, Muakkessa KF, Ho man HJ. Lambdoid synostosis. Part 1. T e lambdoid suture: normal development and
pathology o “synostosis.” J Neurosurg. 1984;61:333–339.
Huang MH, Mouradian WE, Cohen SR, Gruss JS. T e di erential diagnosis o abnormal head shapes: separating craniosynostosis rom
positional de ormities and normal variants. Cleft Palate Craniofac J. 1998;35(3):204–211.
Losken HW, Pollack IF. Craniosynostosis. In: Bentz ML, ed. Pediatric Plastic Surgery. 1st ed. Stam ord: Appleton & Lange; 1998:129–157.
Sidoti EJ Jr, Marsh JL, Marty-Grames L, Noetzel MJ. Long-term studies o metopic synostosis: requency o cognitive impairment and
behavioral disturbances. Plast Reconstr Surg. 1996;97:276–281.
Speltz ML, Kapp-Simon K, Collett B, et al. Neurodevelopment o in ants with single-suture craniosynostosis: presurgery comparisons
with case-matched controls. Plast Reconstr Surg. 2007;119(6):1874–1881.
Watters EC, Hiles DA, Johnson BL. Cloverlea skull syndrome. Am J Ophthalmol. 1973;76:716–720.
Whitaker LA, Bartlett SP, Schut L, Bruce D. Craniosynostosis: an analysis o the timing, treatment, and complications in 164 consecutive
patients. Plast Reconstr Surg. 1987;80(2):195–212.
Zampino G, DiRocco C, Butera G, et al. Opitz C trigonocephaly syndrome and midline brain anomalies. Am J Med Genet. 1997;73:
484–488.

595
John N. Jensen, MD

What anatomic eature divides the primary and secondary palates?
T e incisive oramen.

Which muscles control the velum?
Levator veli palatini, tensor veli palatini, palatopharyngeus, palatoglossus, and musculus uvulae.

What are the anatomic eatures o a submucous cle t palate?
Bi d uvula, zona pellucida (muscle diastasis), V-notch to posterior palatal edge.

What is the probability o a patient with a submucous cle t having velopharyngeal dys unction?
rick question; patients with a submucous cle t who are asymptomatic are unlikely to present to medical
pro essionals; the probability may be estimated at less than 10%.

What is the undamental argument or surgical repair o the palate prior to 18 months o age?
Preservation o speech.

Which o the paired velar muscles is innervated by CN V, mandibular division?
ensor veli palatini.

What is the reason to “stage” a palatal repair?
Delay o elevation o hard palatal mucoperiosteum may preserve mid ace growth potential.

What is the principal vascular supply to the palatal mucoperiosteal ap?
Greater palatine artery and vein.

What is the target o innervation o the greater and lesser palatine nerves?
T ey contribute sensory innervation to the palatal mucosa.
Cleft Lip and Palate
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What is the motor innervation o the velar musculature except the tensor veli palatini?
CN X (vagus) via the pharyngeal plexus.

Which teeth usually originate in the premaxilla?
Central and lateral incisors.

Which tooth is most likely to be abnormal in cle t lip?
Lateral incisor.

What is the signi cance or lateral incisor agenesis in children with cle t patients?
It is a predictor or the need or maxillary advancement.

Where is the lesser palatine oramen?
Posterior to the greater palatine oramen within the palatine bone.

Which muscles o the palate control eustachian tube unction?
ensor veli palatini, and to a lesser extent, levator veli palatini.

What is the blood supply o the so t palate?
Ascending palatine artery is the major source.

What is the argument against gingivoperiosteoplasty in in ancy?
Restricted maxillary growth.

What are the putative etiological actors in cle ting?
Advanced paternal age, genetic, prenatal exposure to drugs, other environmental agents (multi actorial).

Which muscles orm the anterior and posterior tonsillar pillars?
Palatoglossus and palatopharyngeus, respectively.

What is the main unction o the levator veli palatini?
o elevate the so t palate.

Does the tensor veli palatini elevate the palate?
No, it primarily controls eustachian tube unction and possibly contributes to swallowing.

What is the probability that a parent with nonsyndromic cle t lip/palate will have a child with a cle t?
4% or the rst child, and 17% or the second child i the rst child has a cle t.

What is the probability that parents without cle ts who already have a child with a (nonsyndromic) cle t will
have another child with a cle t?
4%.

CHAPTER 61 Cle t Lip and Palate
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What is the probability that a parent with Van Der Woude syndrome will have a child with a cle t?
50% (autosomal dominant inheritance: roughly ollows Mendelian pattern).

What is a Simonart band?
So t tissue at the nasal sill on the a ected side; it is a eature that commonly de nes “incomplete” cle t lip, but it is
abnormal tissue and variable in thickness.

At what point in gestation is the error responsible or cle t lip and palate likely to occur?
Weeks 5 to 6 (lip) and 7 to 8 (palate).

In embryology, what are the ve acial prominences that eventually orm the ace, and what is the error in
cle t lip?
T e ve acial prominences: Frontonasal process, paired maxillary prominences, paired mandibular prominences.
T e rontonasal process derives medial and lateral nasal processes; ailure o usion o one or both o the medial
nasal processes and corresponding maxillary processes results in cle t lip.

What is the purpose o presurgical orthopedics?
o narrow the cle t and align the alveolar segments, acilitating surgical repair by reducing tension.

What is the rate o postoperative cle t palate stula ormation?
It varies widely in reports: 2% to roughly 30%.

What is the essential advantageous eature o the Furlow palatoplasty?
It e ectively lengthens the palate.

What is a criticism o the Furlow palatoplasty?
Ischemic aps induce brosis and reduce mobility o the velum.

What is the most pertinent outcome measure o success o palatoplasty?
Speech intelligibility.

Which cle t palate surgical technique is shown to give superior speech results?
A recent review ound a statistically signi cant reduction in secondary speech surgery in patients treated with
Furlow double-opposing Z-plasty compared to straight line repair.

What is the theoretical purpose o the intravelar veloplasty?
o detach rom the hard palate and correctly reorient the levator muscle and optimize its unction.

What governs the timing o alveolar bone gra ting?
Eruption o the permanent canine on the a ected side (usually 8–10 years).

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In cle t patients with large negative overjets (> 8–10 mm) and normal mandibular projection, what is the
most appropriate treatment or correction o their malocclusion?
Le Fort I distraction osteogenesis.

At what age can Le Fort I distraction be considered?
When the developing dentition has descended suf ciently to accommodate the osteotomy.

How does nasoalveolar molding dif er rom standard presurgical orthopedics?
It addresses the nasal de ormity with passive stretching o the nasal vestibule and alar dome.

Does presurgical nasoalveolar molding improve surgical outcomes in cle t lip/nose repair?
In most studies, there is clear bene t, ranging rom improved nasal symmetry to reduced need or secondary
procedures.

What is the dif erence between presurgical orthopedics and presurgical orthodontics?
Orthopedics re ers to the movement o bone, not teeth, and is applicable in the newborn cle t patient when
re erring to realignment o the alveolar segments.

Is the prevalence o oro acial cle ts on the rise in the United States?
No.

Do children with cle t lip/palate suf er rom reduced oral health-related quality o li e?
Yes.

What is the incidence o cle ts?
About 1 in 700: Asian > Caucasian > A rican.

Why are le t-sided cle ts thought to occur about twice as commonly as those on the right?
Fusion o the le t embryonic processes occurs later, increasing the probability o exposure to mutagenic
mechanisms.

What is the principle that distinguishes the Veau–Wardill–Kilner technique o palatoplasty?
T e V-Y “pushback,” which attempts to posteriorly displace the reconstructed so t palate.

What is the Noordhof ap?
A triangular vermillion ap on the lateral segment that addresses the de ciency o dry vermillion on the medial
segment, as well as contributing bulk to the vermillion.

What is the unction o myringotomy tubes?
o ventilate the middle ear.

CHAPTER 61 Cle t Lip and Palate
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What is the purpose o cle t eeding aids?
o compensate or a lack o suction in the cle t palate baby, by allowing the manual delivery o ormula or breast milk.

How can speech development be impeded by a cle t lip/palate?
Velopharyngeal dys unction, conductive hearing loss, dental derangement.

What is the theoretical advantage o the gingivoperiosteoplasty in in ancy?
It may preclude the necessity or alveolar bone gra ting in mixed dentition.

What is the expected rate o growth in cle t in ants?
0.5 to 1 ounce per day (normal growth).

True or False: Children with unilateral cle t lip/palate exhibit normal growth rom 2 to 10 years o age.
rue.

Where is enamel hypoplasia o the permanent dentition most commonly seen in cle t patients?
In the anterior dentition, at the site o the cle t.

What reasons could explain poor weight gain in a patient with isolated cle t palate?
Poor eeding technique, neuromotor dys unction, occult airway obstruction.

What disciplines are represented in the typical cle t team?
Plastic surgery, otolaryngology, speech pathology, audiology, pediatric dentistry, orthodontics, prosthodontics,
psychology, social work, genetics, nursing.

What genes have been identi ed as involved in susceptibility to nonsyndromic cle t lip/palate?
GF A, GFb3, MSX1, IRF6, BX22, CYP1A1, GS M1, NA 2, M HFR, RARA, PVRL1.

What is a Latham appliance?
A presurgical orthopedic device that actively realigns alveolar segments.

When does a middle ear ef usion typically become apparent in a patient with cle t palate?
Within about 8 weeks rom birth.

What is the essential eature o the von Langenbeck palatoplasty?
Incomplete elevation o hard palatal mucoperiosteal aps.

What are the abnormal anatomic eatures in unilateral cle t lip?
Overall de ciency o lip tissue on the cle t side, shortened columella on the cle t side, upwardly rotated Cupid’s
bow, disruption and aberrant insertion o the orbicularis muscle, o ten pro ound nasal asymmetry, anterior nasal
spine deviated to noncle t side, sagittal retrusion o alveolus and piri orm on cle t side.

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What anatomic eatures distinguish the bilateral cle t lip de ormity rom unilateral cle ts?
Wide nasal tip with splaying o lower lateral cartilages, greater severity in columellar de ciency, greater projection
o the premaxilla, e aced sulcus on the prolabium, absent muscle in the prolabium, and de cient muscle in the
lateral segments o the upper lip.

What characterizes the nasal de ormity in cle ts o the lip/primary palate?
Diminutive lower lateral cartilage, caudally rotated, resulting in a depressed alar dome with a widened base on the
cle t side as well as (o ten severe) septal deviation.

What are the essential eatures o the Millard technique o cle t lip repair?
It levels the Cupid’s bow by rotating a medial ap downward, and advancing the lateral segment into the de ect,
which also narrows the alar base and restores symmetry to the nose; its result is to place the scar along the philtral
column, preserving the philtral dimple.

What is the Randall–Tennison repair?
T is technique lengthens the columella by inserting a rotated triangular ap rom the lateral lip, leaving a scar
within the philtrum and attening the philtral dimple.

What is a “ orme ruste” cle t lip?
A better term is micro orm or minor cle t and re ers to that end o the spectrum o severity o cle ting with lesser
but variable involvement o the vermillion, muscle, and alveolus.

What percentage o cle t lips are incomplete?
Estimates range rom 10% to 30%.

What is the ratio o le t-sided cle ts to right-sided cle ts to bilateral cle ts?
6:3:1.

What is the “M” ap in the Millard rotation-advancement technique o cle t lip repair?
I the cle t is viewed as a geometric void, it is the medial boundary and may be elevated to add lining to the sulcus
or add tissue to reconstruct the nasal oor.

What is the “L” ap in the Millard rotation-advancement technique o cle t lip repair?
T e lateral extent o the void, or superior aspect o the abnormal vermillion on the cle t side; it may be elevated as
a ap based on the nasal mucosa to reconstruct the nasal oor and expand the nasal vestibule on the cle t side.

What is the “C” ap in the Millard rotation-advancement technique o cle t lip repair?
T e skin on the medial aspect o the cle t bounded by the medial vermillion as it extends into the cle t itsel and
the medial incision; it is used to reconstruct the columella.

What is the Mohler modi cation o the Millard rotation-advancement?
T e medial incision is carried onto the columellar skin to add length to the medial lip and allows or downward
rotation o the Cupid’s bow while restricting the scar to the philtral column, columella, and nasolabial junction; in
the classic Millard repair, severely rotated medial segments may require extended back cuts that can leave the scar
positioned obliquely across the philtrum.

CHAPTER 61 Cle t Lip and Palate
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What is the orked ap?
In Millard bilateral cle t lip repair, the lateral segments o the prolabium are preserved and transposed to the nasal
sill, to be reelevated and advanced to midline some years later to e ect columellar lengthening.

When is lip adhesion employed?
It is the rst o a staged repair, where a simple surgical repair joins the lip segments, without rotation or advancement,
in a way that does not compromise the later, de nitive repair. It is usually employed in wide cle ts to have an
orthopedic e ect on the alveolar segments that serve to narrow the cle t or less tension or the de nitive repair.

What is the signi cance o palatal cle t morphology?
Wide, U-shaped cle ts are more o ten associated with the Pierre Robin sequence and may indicate underlying
airway compromise.

When is the cle t nasal de ormity addressed?
Usually at the time o cle t lip repair.

When is secondary cle t nasal surgery usually undertaken?
At age 5 to 6 years, but no rm rule is generally accepted.

What is the arterial supply o the upper lip?
Superior labial artery, branching rom the acial artery.

What is the nerve supply o the upper lip?
Primarily branches o the in raorbital nerve (CN V2).

When is the Abbe–Estlander ap employed in cle t surgery?
O ten in bilateral cle t lip the disparity between upper and lower lip transverse dimension is so great that trans er
o lower lip tissue is indicated to address the short, immobile upper lip that can result in bilateral repair.
REFERENCES
Cutting CB. Bilateral cle t lip repair. In: Mathes SJ, ed. Plastic Surgery. 2nd ed. Philadelphia, PA: Saunders Elsevier; 2006.
Grayson BH, Gar nkle JS. Early cle t management: the case or nasoalveolar molding. Am J Orthodont Dentofacial Orthop. 2014;
145(2):134–142.
Ho man WY, Mount D. Cle t palate repair. In: Mathes SJ, ed. Plastic Surgery. 2nd ed. Philadelphia, PA: Saunders Elsevier; 2006.
Hollier L. Cle t palate and velopharyngeal incompetence. In: Barton FE, ed. Selected Readings in Plastic Surgery. Vol. 8. 23rd ed. Dallas,
X: U -Southwestern Medical Center; 1997.
Jones KL. Smith DM. Recognizable Patterns of Human Malformation. 6th ed. Philadelphia, PA: Elsevier Saunders; 2006.
Lai LH, Hui BK, Nguyen PD, et al. Lateral incisor agenesis predicts maxillary hypoplasia and Le Fort I advancement surgery in cle t
patients. Plast Reconstr Surg. 2015;135(1):142e–148e.
Losee JE, Kirschner RE, eds. Comprehensive Cleft Care. New York, NY: McGraw-Hill; 2009.
Margulis A, Bauer BS. Cle t palate de ormities. In: Bentz ML, Bauer BS, Zucker RL, eds. Principles & Practice of Pediatric Plastic Surgery.
St Louis, MO: Quality Medical Publishing; 2008.

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Marques IL, Nackashi J, Borgo HC et al. Longitudinal study o growth o children with unilateral cle t lip and palate: 2 to 10 years o
age. Cleft Palate Craniofacial J. 2015;52(2):192–197.
Noordho MS, Chen PK . Unilateral cheiloplasty. In: Mathes SJ, ed. Plastic Surgery. 2nd ed. Philadelphia, PA: Saunders Elsevier; 2006.
Ruiz LA, Maya RR, D’Alpino PH, Atta M , da Rocha Svizero N. Prevalence o enamel de ects in permanent teeth o patients with
complete cle t lip and palate. Cleft Palate Craniofac J. 2013;50(4):394–399.
Stuppia L, Capogreco M, Marzo G, et al. Genetics o syndromic and nonsyndromic cle t lip and palate. J Craniofac Surg. 2011;22(5):
1722–1726.
imbang MR, Gharb BB, Rampazzo A, Papay F, Zins J, Doumit G. A systematic review comparing Furlow double-opposing Z-plasty
and straight-line intravelar veloplasty methods o cle t palate repair. Plast Reconstr Surg. 2014;134(5):1014–1022.
Ward JA, Vig KW, Firestone AR, Mercado A, da Fonseca M, Johnston W. Oral health-related quality o li e in children with oro acial
cle ts. Cleft Palate Craniofac J. 2013;50(2):174–181.

603
Jugpal S. Arneja, MD, MBA, FAAP, FACS,
FRCSC and Arun K. Gosain, MD

Describe what is meant by velopharyngeal incompetence (VPI)?
1. T e velopharyngeal structures cannot produce ull closure o the velopharyngeal port.
2. T e velopharyngeal system is structurally inadequate or production o good speech.
3. T e structure o the velopharyngeal system or its neuromotor control is inadequate or production o good
speech.
4. An individual’s speech is perceived as showing characteristics associated with disorders o the velopharyngeal
system.

What terms are associated with VPI?
Velopharyngeal incompetence, inadequacy, de ciency, or insu ciency.

Is there a di erence in the meaning o the relative terms associated with VPI?
T ese terms are speci c to di erent aspects o inadequacy o the velopharyngeal mechanism:
1. Incompetence re ers to impaired motion o the velopharyngeal mechanism.
2. Insuf ciency re ers to tissue de ciency o the velum.
3. Inadequacy re ers to a combination o incompetence and insu ciency, and is the more generic term. T ere ore,
velopharyngeal inadequacy is more properly re erred to as VPI.

What are the symptoms and signs o VPI?
Speech: Hypernasality, compensatory misarticulations, airf ow escape, acial grimacing.
Ref ux: Oronasal regurgitation (f uids > > solids).
Hearing loss (conductive): Eustachian tube dys unction.

What is the hallmark characteristic o VPI on perceptual speech evaluation?
Hypernasality.
Velopharyngeal
Inadequacy
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T e majority o articulated phonemes in the English language require competency or closure o the
velopharyngeal port. Which phonemes in English require an open velopharyngeal port?
1. /m/
2. /n/
3. /ng/

What is the incidence o VPI post-cle t palate repair?
T e incidence varies between 7% and 25% post-palate repair.

What are the etiologies o VPI?
1. Idiopathic insu ciency o palatal musculature.
2. Congenital palatal insu ciency.
3. Submucous cle t palate (SMCP).
4. Post-cle t palate repair.
5. Postpharyngeal f ap or pharyngoplasty.
6. Postadenoidectomy or adenoid involution.
7. Enlarged tonsils.
8. Postmid ace advancement.
9. Neurogenic causes.
10. Adynamic velopharyngeal sphincter.
11. Functional or hysterical hypernasality.
12. Palatopharyngeal disproportion.

What is the most common cause o VPI?
Post-cle t palate repair.

What anatomically makes up the velopharyngeal space?
Velum/so t palate (anterior border), posterior pharyngeal wall (posterior border), lateral pharyngeal walls (lateral
borders).

What muscles contribute to closure o the velopharynx?
Levator veli palatini, superior pharyngeal constrictor, palatopharyngeus, tensor tympani, musculus uvulae.

What is the most important muscle regarding closure o the velopharyngeal space or speech?
Levator veli palatini muscle.

Discuss unctions during opening and closing o the velopharynx.
Opening o the velopharynx: Facilitates breathing and normal speech production o nasal phoneme articulations.
Closure o the velopharynx: Allows normal speech production o oral consonants and prevents oronasal ref ux.

CHAPTER 62 Velopharyngeal Inadequacy
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How does the velopharynx close?
T e velum moves posteriorly and superiorly, the posterior pharyngeal wall moves anteriorly, the lateral pharyngeal
walls move medially, and the tonsils and adenoids may augment or inter ere with the unction o the walls during
velopharyngeal closure.

Who contributes to the evaluation o VPI?
An interdisciplinary team consisting o :
1. Plastic surgeon
2. Speech/language pathologist
3. Otolaryngologist
4. Audiologist
5. Radiologist
6. Geneticist

How should VPI be evaluated?
T e initial assessment o speech should be based on a perceptual assessment by a trained speech-language
pathologist. Based on this assessment a patient is given a diagnosis o VPI. Whereas not all speech-language
pathologists make this diagnosis based on a numeric scale, use o such scales is highly recommended or
consistency and interrater reliability. Patients who are given a diagnosis o VPI can then undergo urther testing.
Indirect methods: Mirror test, nasometry
Direct methods: Nasopharyngeal endoscopy, multiview videof uoroscopy

What methodology employed by the speech-language pathologist has been the most consistent or
intercenter auditing o cle t speech?
T e Cle t Audit Protocol or Speech—Augmented (CAPS-A).

How has the CAPS-A methodology impacted speech assessment worldwide?
CAPS-A now orms the basis or both the EuroCle t and the AmeriCle t protocols or speech evaluation.

What are the parameters used or rating speech by the CAPS-A?
T e patient’s speech is evaluated perceptually (auditory and visual input) by a trained speech pathologist. CAPS-A
establishes a numeric scale by which to rate cle t speech based on the ollowing parameters, each o which provides
a relative score in which 0 is normal, and the higher the number, the more severe the inadequacy:
1. Intelligibility/Distinctiveness o speech (score: 0–4)
2. Voice characteristics (score: 0–1)
3. Resonance
a. Hypernasality (score: 0–4)
b. Hyponasaility (score: 0–2)
4. Nasal airf ow
a. Audible nasal emission (score: 0–2)
b. Nasal turbulence (score: 0–2)
5. Grimace (score: 0–1)

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What modality has been recently studied that might have e cacy in the evaluation o VPI?
Functional magnetic resonance imaging ( MRI).

At what age should a perceptual speech assessment be per ormed?
Although a baseline evaluation can be per ormed at approximately 1.5 years o age, an objective assessment o
velopharyngeal unction can rarely be obtained prior to 2.5 to 3 years o age as patients need to be cooperative or
a thorough perceptual speech assessment.

What are the closure patterns seen with nasopharyngeal endoscopy?
Four types o closure patterns are ound on nasopharyngeal endoscopy:
1. Coronal (most common, 55%)
2. Circular (20%)
3. Circular with Passavant’s ridge (15–20%)
4. Sagittal (10–15%)

What can a plastic surgeon x?
T e goal o surgery is to prevent airf ow escape through the nose during phonation; surgeons can x stula(e),
lengthen the palate (Furlow or via addition o buccal f aps), augment the palate or posterior wall, create a passive
obstruction (pharyngeal f ap), or create a dynamic posterior sphincter (sphincter pharyngoplasty). T e remainder
o speech-related problems associated with VPI must be corrected with speech therapy.

What nonsurgical treatments are available or VPI?
Speech therapy, palatal li t, palatal prosthesis, velopharyngeal obturator.

What surgical treatments are available or VPI?
Palatal lengthening (Furlow palatoplasty or V-Y pushback palatoplasty), posterior wall augmentation (alloplastic or
autogenous materials), sphincter pharyngoplasty, pharyngeal f ap.

What materials are available or posterior wall augmentation?
Alloplastic: ef on, silastic, silicone gel, proplast, hyaluronic acid derivatives Autogenous: Autologous cartilage,
autologous ascia, at.

Is posterior wall augmentation used in practice today?
Most centers have abandoned posterior wall augmentation because o unpredictable results and implant migration,
extrusion, or exposure. However, recently some centers have ound success using at gra ting or augmentation o
the posterior wall or so t palate.

What is a sphincter pharyngoplasty?
A surgical procedure designed to tighten the central ori ce and occlude the lateral aspects o the velopharyngeal
sphincter.

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Which muscle orms the basis or a success ul sphincter pharyngoplasty? How is it done?
Palatopharyngeus; two (right and le t) myomucosal (palatopharyngeus) f aps are elevated rom the posterior
tonsillar pillars and are sutured to each other and to the posterior pharyngeal wall.

When should a sphincter pharyngoplasty be per ormed?
T ere is no consensus in the literature, but historically sphincter pharyngoplasties have been per ormed or
documented cases o su cient palatal length and mobility, with poor lateral wall motion in the setting o
hypernasality/airf ow escape on perceptual speech evaluation.

What are the complications o a sphincter pharyngoplasty?
Flap dehiscence, sleep apnea, snoring, airway obstruction, persistent hypernasality.

What is a pharyngeal f ap?
T e creation o a midline subtotal obstruction o the oral and nasal cavities with two small lateral openings
(ports) that remain patent during respiration and nasal consonant production and closed during oral consonant
production.

How is a pharyngeal f ap done?
A myomucosal f ap based on the superior constrictor muscle is elevated rom the posterior pharyngeal wall and is
attached to the so t palate creating an incomplete midline obstruction; the donor site can be closed primarily or
allowed to heal secondarily.

Should a superiorly or in eriorly based pharyngeal f ap be per ormed?
Superiorly based f aps are most requently used since in eriorly based f aps can tether the velopharyngeal port
closure in an in erior direction, opposite to the necessary superior direction or correct velopharyngeal closure.

When should a pharyngeal f ap be per ormed?
Again, there are no clear indications, but historically pharyngeal f aps are per ormed when there is su cient lateral
wall motion but a short so t palate or adynamic anteroposterior palate closure in the setting o hypernasality/
airf ow escape on perceptual speech evaluation.

What are the complications o a pharyngeal f ap?
Flap dehiscence, sleep apnea, snoring, airway obstruction, hyponasality, persistent hypernasality.

What is velocardio acial (VCF) syndrome? What is the concern to a surgeon treating VPI in patients with
VCF syndrome?
VCF syndrome is an autosomal dominant condition associated with deletions on the long arm o chromosome 22.
Major clinical ndings include cle t palate, congenital heart anomalies, cognitive impairment, and abnormal
acies. T e concern o a VPI surgeon is that patients with VCF may have medially displaced carotid arteries that
make injury to the carotids a possibility during pharyngeal surgery.

What test is essential prior to surgical correction o VPI in patients with VCF syndrome?
Magnetic resonance angiography (MRA) or angiography.

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What is the recommended surgical treatment or VPI in VCF patients?
T is remains controversial, but some groups report high success rates using a high, wide pharyngeal f ap.

What is a submucous cle t palate (SMCP)?
A SMCP is classically de ned as patients having a bi d uvula, a zona pellucida (palatal muscle diastasis), and
absence o the posterior nasal spine (identi ed as a bony notch in the posterior aspect o the hard palate in lieu o
a posterior nasal spine).

What is the incidence o VPI in patients with an SMCP?
One in nine (11%).

What should the treatment be o an SMCP?
SMCP should be initially evaluated by perceptual speech evaluation; surgery should only be per ormed or
documented cases o VPI ollowing a thorough speech evaluation.

What is the “black hole” in VPI?
On nasoendoscopic evaluation o the velopharyngeal space, there is con rmation o both poor lateral wall motion
and a large anterior–posterior velopharyngeal gap.
REFERENCES
Arneja JS, Hettinger P, Gosain AK. T rough and through dissection o the so t palate or pharyngeal f ap inset. A new technique or
velopharyngeal incompetence in velocardio acial syndrome. Plast Reconstr Surg. 2008;122:845–852.
Bicknell S, McFadden LR, Curran JB. Frequency o pharyngoplasty a ter primary repair o cle t palate. J Can Dent Assoc. 2002;68:
688–692.
Boneti C, Ray PD, Macklem EB, Kohanzadeh S, de la orre J, Grant JH. E ectiveness and Sa ety o autologous at gra ting to the so t
palate alone. Ann Plast Surg. 2015;74:S190–S192.
Conley SF, Gosain AK, Marks SM, Larson DL. Identi cation and assessment o velopharyngeal inadequacy. Am J Otolaryngol. 1997;
18:38–46.
Cro t CB, Shprintzen RJ, Rako SJ. Patterns o velopharyngeal valving in normal and cle t palate subjects: a multiview videof uoroscopic
and nasendoscopic study. Laryngoscope. 1981;91:265–271.
David DJ, Bagnall AD. Velopharyngeal incompetence. In: McCarthy JG, ed. Plastic Surgery. 1st ed. Philadelphia, PA: WB Saunders,
1990:2903–2921.
Denny AD, Marks SM, Oli -Carneol S. Correction o velopharyngeal insu ciency by pharyngeal augmentation using autologous
cartilage: a preliminary report. Cle t Palate Cranio ac J. 1993;30:46–54.
Dworkin JP, Marunick M , Krouse JH. Velopharyngeal dys unction: speech characteristics, variable etiologies, evaluation techniques,
and di erential treatments. Lang Speech Hear Serv Sch. 2004;35:333–352.
Folkins JW. Velopharyngeal nomenclature: incompetence, inadequacy, insu ciency, and dys unction. Cle t Palate J. 1988;25:413–416.
Gart MS, Gosain AK. Surgical management o velopharyngeal insu ciency. Clin Plast Surg. 2014;41(2):253–270.
Gosain AK, Arneja JS. Management o the black hole in velopharyngeal incompetence: combined use o a Furlow palatoplasty and
sphincter pharyngoplasty. Plast Recon Surg. 2007;119:1538–1545.
Gosain AK, Conley SF, Marks S, Larson DL. Submucous cle t palate: diagnostic methods and outcomes o surgical treatment. Plast
Reconstr Surg. 1996;97:1497–1509.
John A, Sell D, Sweeney , Harding-Bell A, Williams A. T e Cle t Audit Protocol or Speech—Augmented: a validated and reliable
measure or auditing cle t speech. Cle t Palate Cranio ac J. 2006,43:272–288.
Marsh JL. Management o velopharyngeal dys unction: di erential diagnosis or di erential management. J Cranio ac Surg. 2003;14:
621–628.

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Marsh JL. T e evaluation and management o velopharyngeal dys unction. Clin Plastic Surg. 2004;31:261–269.
Mitnick RJ, Bello JA, Golding-Kushner KJ, Argamaso RV, Shprintzen RJ. T e use o magnetic resonance angiography prior to
pharyngeal f ap surgery in patients with velocardio acial syndrome. Plast Reconstr Surg. 1996;97:908–919.
Schendel SA, Lorenz HP, Dagenais D, Hopkins E, Chang J. A single surgeon’s experience with the Delaire palatoplasty. Plast Reconstr
Surg. 1999;104:1993–1997.
Sirois M, Caouette-Laberge L, Spier S, Larocque Y, Egerszegi EP. Sleep apnea ollowing a pharyngeal f ap: a eared complication. Plast
Reconstr Surg. 1994;93:943–947.
Sloan GM. Posterior pharyngeal f ap and sphincter pharyngoplasty: the state o the art. Cle t Palate Cranio ac J. 2000;37:112–122.
atum SA 3rd, Chang J, Havkin N, Shprintzen RJ. Pharyngeal f ap and the internal carotid in velocardio acial syndrome. Arch Facial
Plast Surg. 2002;4:73–80.
Vedung S. Pharyngeal f aps a ter one- and two-stage repair o the cle t palate: a 25-year review o 520 patients. Cle t Palate Cranio ac J.
1995;32:206–215.
Witt PD, D’Antonio LL. Velopharyngeal insu ciency and secondary palatal management. a new look at an old problem.. Clin Plast
Surg. 1993;20:707–721.
Witt PD, Marsh JL, Muntz HR, Watchmaker GP. Acute obstructive sleep apnea as a complication o sphincter pharyngoplasty. Cle t
Palate Cranio ac J. 1996;33:183–189.
Witt PD. Velopharyngeal insu ciency. In: Achauer B, ed. Plastic Surgery: Indications, Operations, and Outcomes. 1st ed. St Louis, MO:
CV Mosby, 2000:819–833.

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611
Kristen A. Hudak, MD and
Arlen D. Denny, MD

Name the six primary muscles o the velopharyngeal mechanism.
Levator veli palatini, tensor veli palatini, musculus uvulae, palatoglossus, palatopharyngeus, superior constrictor.

Which o these muscles is innervated by V3?
ensor veli palatini. (T e others are all innervated by rom the pharyngeal plexus—IX, X, XI)

What is the primary unction o tensor veli palatini?
Opening o the eustachian tube.

In what direction(s) does the so t palate move to close the velopharyngeal portal?
Posteriorly and superiorly.

What muscle is primarily responsible or this movement?
Levator veli palatini.

What muscle is primarily responsible or medial movement o the lateral pharyngeal walls during closure o
the velopharyngeal portal?
Levator veli palatini.
Pharyngoplasty/
Pharyngeal Flaps/
Speech Therapy
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What is Passavant’s ridge?
ransversely oriented ridge on the posterior pharyngeal wall, due to bulging o the bers o superior constrictor.

Where does Passavant’s ridge usually lie relative to the level o velopharyngeal closure?
Approximately 1 cm in erior, o ten does not close the velopharyngeal gap.

Which arteries supply the so t palate?
Lesser palatine artery, ascending palatine branch o acial artery, palatine branches o ascending pharyngeal artery.

What is the di erence between velopharyngeal incompetence (VPI) and velopharyngeal insu ciency?
VPI is the inability to adequately close the palate against the pharyngeal wall leading to nasal air escape.
Insu ciency re ers to an anatomic or structural de ect that can be congenital or due to surgery. Examples include:
cle t palate, congenitally short palate/large pharynx, or a ter an adenoidectomy or an ablative surgery.
Incompetence re ers to neuromuscular de cit. Examples include: myasthenia gravis, cerebral palsy, stroke, head
injury, or upper/lower motor neuron lesions.

What is rhinolalia aperta?
Hypernasal speech due to inadequate closure o the velopharyngeal portal.
Figure 63-1 Pattern o velopharyngeal closure. (Reproduced with permission rom, Fisher DM, Sommerlad BC. Cle t lip, cle t palate,
and velopharyngeal insu ciency. Plast Reconstr Surg. 2011;128(4):342e–360e.)

Name the our patterns o velopharyngeal closure (Fig. 63-1).
Coronal, sagittal, sphincteric, and sphincteric with Passavant’s ridge.

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Can hypernasality be quanti ed?
Yes, with a nasometer. T is device uses a nasal microphone, an oral microphone, and a computer to analyze the
relative sound output rom each source. It calculates the nasalance as a ratio o the nasal acoustic emission to the
nasal and oral acoustic emission.

What is a ricative?
Consonant sound produced by the constriction o the air stream to create riction, as in , v, s, z, th, or sh.

What distinguishes the di erent ricatives?
Position o the articulators (e.g., the tongue articulates with the teeth or th, and with the alveolar ridge or s or z).

What is a pharyngeal ricative?
Fricative produced by articulation o the tongue base against the posterior pharyngeal wall.

Name an example o a pharyngeal ricative in normal English speech.
T ere is none. A pharyngeal ricative is used by patients with VPI as a substitute or a normal oral ricative.

What is a stop plosive?
Consonant sound produced by the sudden release o intraoral pressure, as in p, b, t, d, k, or g.

What is a glottal stop?
Plosive sound made a ter the adducted vocal cords suddenly open. It is a common misarticulation by patients with
VPI. T e only example in normal English is “uh.”

What is a posterior nasal ricative?
T e back o the tongue articulates against the velum (attempt to close the posterior nasal aperture). T is sounds
like a nasal snort.

What is an anterior nasal ricative?
Nasal grimacing (attempt to close anterior nasal aperture).

What is a diphthong?
Single syllable with two vowel sounds (e.g., cow, toy, about). Diphthongs require signi cant velar elevation and
mobility, and are thus di cult or patients with VPI.

Besides hypernasality, what other category o speech disturbance is associated with VPI?
Misarticulations.

Besides VPI, what are other common reasons or misarticulation in the pediatric plastic surgery population?
Congenital hearing loss, developmental delay, abnormal dentition (e.g., V-shaped maxillary dentition in Apert
syndrome), malocclusion.

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Describe the Cul-de-sac test.
Cul-de-sac resonance is when sound resonates in a cavity, however, cannot get out due to obstruction. o test you
ask the patient to repeat a word like “bat” or “boot” twice, the second time with the patient’s nose pinched. I the
resonance is di erent, the oral and nasal cavities are coupled (i.e., there is inadequate velopharyngeal closure).

What is pressure–f ow instrumentation?
Objective assessment o nasal airf ow and di erential oral–nasal air pressure.

What are the two most common imaging modalities or the assessment o VPI?
Videof uoroscopy and nasal endoscopy.

What is the advantage o videof uoroscopy?
Ability to de ne the level o velopharyngeal closure in the sagittal plane (i.e., with respect to Passavant’s ridge).
T is test requires less cooperation than nasal endoscopy.

What is the advantage o nasal endoscopy?
Ability to directly visualize the entire velopharyngeal mechanism during speech. T is allows characterization o the
closure pattern.

What are the indications or a palatal obturator?
Extremely wide cle t with little or no velar movement (in whom surgery would be expected to have a poor
outcome), neuromuscular de cit, poor surgical candidate, surgical ailure.

What is the orientation o the levator bers within the normal so t palate and in the cle t palate?
ransverse/horizontal in the normal palate.
Longitudinal with abnormal insertion at the posterior hard palate in the cle t palate patient.

What is an intravelar veloplasty?
Redirection o the aberrantly oriented levator muscles to the transverse plane, permitting unctional mobility o
the so t palate.

What is the incidence o VPI a ter standard palatoplasty and intravelar veloplasty?
Approximately 20%.

What common palatoplasty technique has the lowest incidence o postoperative VPI?
Furlow double-opposing Z-plasty.

What is the incidence o VPI in individuals with submucous cle t palate?
10% to 15%, rst re er or speech therapy, i repair needed use double-opposing Z-palatoplasty

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What is pharyngeal augmentation?
Placement o autologous tissue or alloplastic material in the retropharyngeal space with the goal o reducing the
size o the velopharyngeal gap. Reported substances include bone, cartilage, ascia, mucosa, at, and calcium
hydroxyapatite. No study has demonstrated a sa e, e ective and reliable material or long-term reduction in
velopharyngeal gap.

T e retropharyngeal space lies between what two ascial planes?
Buccopharyngeal ascia and prevertebral ascia.

What layers are included in the posterior pharyngeal f ap (PPF)?
A rectangular f ap is designed either superiorly or in eriorly on the posterior pharyngeal wall including: mucosa,
muscle (superior constrictor), buccopharyngeal ascia. T is f ap is elevated super cial to the prevertebral ascia and
inset at the posterior so t palate (Fig. 63-2).
Figure 63-2 Posterior pharyngeal f ap. (Reproduced with permission rom, Kirschner RE, Baylis AL. Velopharyngeal dys unction.
In: Neligan PC. Plastic Surgery. New York, NY: Elsevier; 2013.)

What important vascular structure lies 1 to 1.5 cm lateral to the PPF?
Internal carotid artery.

T e internal carotid artery is o ten medially displaced in what common cranio acial syndrome?
Velocardio acial syndrome. A magnetic resonance angiography can be obtained to evaluate preoperatively.

What can be done to prevent contracture and rolling o a PPF?
Lining the raw sur ace with nasal mucosal f aps rom the so t palate.

What are the most serious complications o PPF surgery?
Hemorrhage and sleep apnea.

What are the risk actors or postoperative sleep apnea?
Age < 5 years, microretrognathia, upper respiratory tract in ection, history o perinatal respiratory dys unction,
tonsillar or adenoid enlargement (some recommend tonsillectomy prior/during surgery).