Which of the following studies is most likely to lead to a diagnosis in this patient?

(A) Measurement of serum creatine kinase level
(B) Chromosomal karyotyping
(C) Fluorescent in situ hybridization (FISH) analysis
(D) MR angiography

The correct response is Option C.

This 7-year-old boy has findings consistent with velocardiofacial syndrome, or Shprintzen syndrome, an autosomal dominant disorder with variable expressivity. Affected patients characteristically have velopharyngeal insufficiency, developmental delay, and facial abnormalities, including upward slanting of the palpebral fissures and a prominent nose with a broad nasal root and narrow alar base. Velocardiofacial syndrome has been diagnosed in as many as 8% of children with clefts of the secondary palate; however, cleft palate is not always seen in children with velocardiofacial syndrome. Cardiac anomalies, such as aberrant carotid arteries, are present in most patients, and the risk for arterial bleeding is increased during pharyngeal flap repair.

Because velocardiofacial syndrome is associated with a deletion on the long arm of chromosome 22q11.2, fluorescent in situ hybridization (FISH) analysis can be used to test any child with suspected velocardiofacial syndrome for chromosomal deletions. Although routine chromosomal karyotyping will not detect the small deletion associated with velocardiofacial syndrome, fluorescent-tagged DNA probes can be used in conjunction with routine cytogenetic examination. On examination with a fluorescent microscope, a child with a normal chromosomal pattern will have two signals (one on each chromosome), whereas only one signal will be present in the child with velocardiofacial syndrome.

Serum creatine kinase levels are increased in patients with muscular dystrophy. Although MR angiography will show aberrant blood vessels in patients with velocardiofacial syndrome, it is not diagnostic.

References
1. Leana-Cox J, Pangkanon S, Eanet KR, et al. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome 22q11.2: report of five families with review of the literature. Am J Med Genet. 1996;65:309-316.
2. Raymond GV. Craniofacial genetics and dysmorphology. In: Achauer BM, Erikson E, Guyuron B, et al, eds. Plastic Surgery: Indications, Operations, and Outcomes. Saint Louis, Mo: Mosby Ð Year Book, Inc; 2000;2:614-615.
3. Shprintzen RJ. Velocardiofacial syndrome. Otolaryngol Clin North Am. 2000;33:1217-1240.

A 3-month-old infant is being evaluated because his parents are concerned that his head is abnormally shaped. Examination shows scaphocephaly and occipital bossing. Which of the following is the most appropriate management for correction of the deformity?

(A) Modification of sleep positioning
(B) Molding helmet therapy
(C) Monobloc advancement
(D) Cranial vault remodeling with barrel staving
(E) Bilateral frontal craniotomy and bilateral fronto-orbital advancement

The correct response is Option D.

This 3-month-old infant with scaphocephaly should undergo cranial vault remodeling with barrel staving. Scaphocephaly involves premature closure of the sagittal suture. Affected patients have a long, narrow, keel-shaped skull. Frontal and occipital bossing may also be seen. Cranial vault remodeling with a barrel stave technique will help increase the width of the skull. Although sagittal strip craniectomy has been shown to produce improvement in infants with mild forms of sagittal synostosis, it cannot be used alone to widen the skull or correct frontal bossing.

Modification of the infant's sleep position and/or use of a molding helmet are only effective in patients with open head sutures and will do nothing to change head shape in this infant with a prematurely closed sagittal suture. These techniques are used instead in infants with deformational (ie, nonsynostotic) plagiocephaly.

Monobloc advancement creates osteotomy lines similar to those produced by a Le Fort III procedure but does not osteotomize the nasofrontal junction and frontozygomatic suture. This technique allows for correction of supraorbital and midface deformities simultaneously but is associated with high rates of infection and cerebrospinal fluid leakage. These complications are thought to occur as a result of direct communication between the cranial and nasal cavities.

Bilateral frontal craniotomy and bilateral fronto-orbital advancement are effective for correction of unicoronal and bicoronal synostosis.

References
1. Marchac D, Renier D. Craniosynostosis and craniofacial dysostosis. In: Cohen M, ed. Mastery of Plastic and Reconstructive Surgery. Boston, Mass: Little, Brown & Co; 1994;1:499-515.
2. Muhling J. Surgical treatment of craniosynostosis. In: Booth PW, Schendel SA, Hausamen JE, eds. Maxillofacial Surgery. London, England: Churchill Livingstone, Inc; 1999;2:877-888.
3. Pyo DJ, Persing JA. Craniosynostosis. In: Aston SJ, Beasley RW, Thorne CH, eds. Grabb & Smith's Plastic Surgery. 5th ed. Philadelphia, Pa. Lippincott-Raven; 1997:281-293.
4. Williams JK, Cohen SR, Burstein FD, et al. Nonsyndromic craniosynostosis. In: Achauer BM, Erikson E, Guyuron B, et al, eds. Plastic Surgery: Indications, Operations, and Outcomes. Saint Louis, Mo: Mosby - Year Book, Inc; 2000;2:683-706.

PHOTO

The photograph shown above is of a neonate who has a large, horseshoe-shaped cleft involving the hard and soft palates. He has difficulty breathing when placed in the supine position; his chest wall retracts and he grunts. Which of the following is the most likely diagnosis?

(A) Binder syndrome
(B) Klippel-Feil anomaly
(C) Pierre Robin sequence
(D) van der Woude syndrome
(E) Velocardiofacial syndrome

The correct response is Option C.

This neonate has the triad of symptoms associated with Pierre Robin sequence Ñ micrognathia, glossoptosis, and respiratory distress. Although cleft palate is often associated, it does not have to be present in order to make this diagnosis. Pierre Robin sequence is thought to result from forces that prevent the movement of the fetal tongue from between the vertically oriented palatal shelves, resulting in incomplete closure of the palatal shelves and ultimately cleft palate.

Appropriate management of neonates with cleft palate is attempted prone positioning to clear the airway and relieve the respiratory distress. The child should be evaluated for any anomalies of the lower airway that may be contributing to this problem. Secondary measures for airway control include tongue-lip adhesion and/or mandibular distraction osteogenesis. Tracheostomy is associated with high rates of morbidity and mortality in neonates and should only be performed if absolutely necessary.

Patients with Binder syndrome have hypoplasia of the nasomaxillary complex, with a low-set and flattened nasal tip, a short retracted columella, and absence of the anterior nasal spine. The columella and upper lip appear to be drawn into the floor of the nostrils. Angle class III malocclusion is characteristic.

Klippel-Feil anomaly manifests as a short neck, a low posterior hairline, deformities of the cervical spine, facial abnormalities, and hearing loss. Cleft palate is often associated.

Velocardiofacial syndrome, or Shprintzen syndrome, is associated with a deletion in chromosome 22q. It the most common syndrome seen in association with cleft lip and palate. Other findings include velopharyngeal dysfunction, facial abnormalities, cardiac anomalies, and absence of the thymus and parathyroid glands.

Patients with van der Woude syndrome have cleft lip and palate and lower lip pits resulting from the presence of accessory salivary glands. Anomalies of the extremities and genitalia have been reported.

References
1. Gosain AK, Moore FO. Embryology of the head and neck. In: Aston SJ, Beasley RW, Thorne CH, eds. Grabb & Smith's Plastic Surgery. 5th ed. Philadelphia, Pa: Lippincott-Raven; 1997:223-236.
2. Lettieri S, Vander Kolk CA. Craniofacial syndromes. In: Weinzweig J, ed. Plastic Surgery Secrets. Philadelphia, Pa: Hanley & Belfus, Inc; 1999:96-99.
3. Munro IR, Jay PP, Randall P, et al. Craniofacial syndromes. In: McCarthy JG, ed. Plastic Surgery. Philadelphia, Pa: WB Saunders Co; 1990;4:3101-3123.

A 4-month-old child has an abnormal head shape. Physical examination shows anterior displacement of the right ear and zygoma and the right side of the forehead; there is abnormal flattening of the right side of the occipital skull. The skull shape appears similar to a parallelogram. There is no bulging of the mastoid or ridging of the sutures.

These findings are most consistent with which of the following?

(A) Bilateral posterior deformational plagiocephaly
(B) Left-sided posterior deformational plagiocephaly
(C) Left-sided posterior lambdoidal craniosynostosis
(D) Right-sided posterior deformational plagiocephaly
(E) Right-sided posterior lambdoidal craniosynostosis

The correct response is Option D.

Plagiocephaly, or abnormal head shape, can be characterized as synostotic (resulting from craniosynostosis) or nonsynostotic (resulting from deformation or molding of the skull). Unilateral coronal and lambdoidal craniosynostosis are the most common causes of synostotic plagiocephaly. In contrast, deformational plagiocephaly, or skull molding, typically results from placing the infant in a fixed supine position for sleep. Posterior deformational plagiocephaly now occurs in one out of 70 infants. The increase in the incidence of this condition is due to recent recommendations by the American Academy of Pediatrics that infants be placed in the supine position during sleep to decrease the incidence of sudden infant death syndrome (SIDS).

Most infants with posterior deformational plagiocephaly have unilateral findings, including flattening of the occiput associated with anterior displacement of the ipsilateral ear. In severe forms of deformational plagiocephaly, there may be anterior displacement of the ipsilateral forehead and zygoma and widening of the ipsilateral palpebral fissure, resulting in a parallelogram-shaped cranium. If the condition is diagnosed early, treatment involves repeatedly repositioning the child out of the "flat spot." However, cranial molding helmets may be required for those infants who have severe deformational plagiocephaly, who are resistant to repositioning, or in whom the condition is diagnosed late.

Infants with bilateral posterior deformational plagiocephaly have flattening of the occiput, bulging of the mastoid bilaterally, and bossing of the biparietal eminence. The suture is not ridged, and the ears are essentially symmetric.

Lambdoidal craniosynostosis is characterized by ipsilateral flattening of the occiput in combination with ridging of the fused lambdoid suture. There is compensatory bulging of the contralateral parietal skull and bulging of the ipsilateral mastoid skull, resulting in an inferior, not anterior, displacement of the ipsilateral ear. This gives the cranium a trapezoid-like shape. Appropriate management is craniofacial surgery with cranial vault remodeling at approximately 6 to 9 months of age.

References
1. Huang MH, Gruss JS, Clarren SK, et al. The differential diagnosis of posterior plagiocephaly: true lambdoid synostosis versus positional molding. Plast Reconstr Surg. 1996;98:765.
2. Mulliken JB, Vander Woude DL, Hansen M, et al. Analysis of posterior plagiocephaly: deformational versus synostotic. Plast Reconstr Surg. 1999;103:371.

For each patient or group of patients, select the most likely diagnosis (A-E).

(A) Apert syndrome
(B) Carpenter syndrome
(C) Crouzon syndrome
(D) Nager syndrome
(E) Pfeiffer syndrome

PHOTO

An infant has brachycephaly, hypertelorism, a bregmatic "bump," and bony syndactyly of the fingers. A photograph is shown above.

PHOTO

Three members of a family have exorbitism, proptosis, retromaxillism, and recession of the frontal bone. There are no extremity abnormalities. A photograph is shown above.

The correct response for Item 49 is Option A and for Item 50 is Option C.

The infant has findings consistent with Apert syndrome, which is characterized by brachycephaly, hypertelorism with flattening of the face, strabismus, palsy of the ocular muscles, an antimongoloid slant of the palpebral fissures, and maxillary hypoplasia. Affected patients typically have a prominent bregmatic eminence or "bump." There is bony syndactyly with complete fusion of the four fingers; the thumb is unaffected. Cutaneous syndactyly of the toes may be simple or complex. Although occurrence is typically sporadic, new mutations with autosomal dominant inheritance have been detected.

The affected family most likely has Crouzon syndrome, characterized by exorbitism, retromaxillism, inframaxillism, and paradoxical retrogenia. Inheritance is autosomal dominant, and occurrence is both sporadic and familial. Affected patients typically have recession of the frontal bone and supraorbital rim, midface retrusion, exorbitism with proptosis, and hypoplasia of the infraorbital rim. Hypertelorism, a bregmatic "bump," and abnormalities of the hands are not characteristic.

Patients with Carpenter syndrome, or acrocephalopolysyndactyly, have craniosynostosis, shortened fingers, soft-tissue syndactyly, preaxial polydactyly, congenital cardiac disease, hypogenitalism, obesity, and umbilical herniation. The inheritance pattern of this syndrome is autosomal recessive.

Nager syndrome, or acrofacial dysostosis, is an autosomal recessive condition. Affected patients typically have short stature, cleft palate, and hypoplasia of the orbits, zygoma, maxilla, and mandible. Preaxial reduction defects occur in the upper, and sometimes lower, limbs. Hypoplasia or agenesis of the thumbs, radius, and one or more metacarpals is also characteristic.

Pfeiffer syndrome is an autosomal dominant disorder characterized by variable forms of craniosynostosis, acrocephalosyndactyly with broad thumbs and great toes, and severe midface hypoplasia.
References
1. Bartlett SP, Mackay GJ. Craniosynostosis syndromes. In: Aston SJ, Beasley RW, Thorne CH, eds. Grabb & Smith's Plastic Surgery. 5th ed. Philadelphia, Pa: Lippincott-Raven; 1997:295-304.
2. Goodrich JJ, Hall CD. Craniofacial Anomalies: Growth and Development from a Surgical Perspective. New York, NY: Thieme Medical Publishers, Inc; 1995.
3. Posnick JC. The craniofacial dysostosis syndromes. Clin Plast Surg. 1994;21:585.

A 30-year-old woman has nasal obstruction on inspiration two years after undergoing rhinoplasty. On intranasal examination, the angle of the internal nasal valve is less than 10 degrees. Which of the following is the most appropriate surgical procedure for correction of this deformity?

(A) Auricular composite grafting
(B) Lateral crural strut grafting
(C) Use of spreader grafts
(D) Transposition of an alar base flap
(E) Submucous resection

The correct response is Option C.

If the dorsal hump is resected without adequately moving the medial upper lateral cartilage and mucosa away from the septum, a patient undergoing rhinoplasty is at risk for injury and destabilization of the internal nasal valve with the potential for subsequent collapse. The internal nasal valve angle typically measures 10 to 15 degrees. If the internal nasal valve angle is less than 10 degrees, spreader grafts should be inserted between the upper lateral cartilage and septum.

An alar base flap is appropriate for correction of vestibular stenosis accompanied by malpositioning of the alar base. This deformity typically results from excessive resection of the alar base and often occurs in patients undergoing secondary rhinoplasty procedures.

Patterned composite grafts of auricular cartilage are used in patients who have external nasal valve deformities that involve cartilage and vestibular skin.

Lateral crural strut grafts are indicated for correction of alar rim collapse and concavity or malpositioning of the lateral crura.

Because preservation of cartilage is an important consideration in any patient undergoing a secondary procedure, submucous resection should only be performed in patients who have airway obstruction caused by septal deviation.

References
1. Guyuron B. Nasal osteotomy and airway changes. Plast Reconstr Surg. 1998;102:856-863.
2. Howard BK, Rohrich RJ. Understanding the nasal airway: principles and practice. Plast Reconstr Surg. 2002;109:1128-1146.
3. Rohrich RJ, Sheen JH. Secondary rhinoplasty. In: Grotting JC, ed. Reoperative Aesthetic and Reconstructive Surgery. Saint Louis, Mo: Quality Medical Publishing, Inc; 1995:401-510