Craniofacial Anomalies, Part 2 - Plastic Surgery Internal

Pfeiffer syndrome is inherited as an autosomal
dominant disorder. Muenke et al 283 and Kerr and
colleagues 284 report an affected family in which some
individuals have normal thumbs although several relatives
do have hand anomalies (symphalangism). Not
only is there phenotypic variability in Pfeiffer syndrome
and other acrocephalic syndactylies, but recent
molecular data indicate variable phenotypic expression
for patients who have identical mutations. Point
mutations in FGFR2 have been identified in Crouzon,
Jackson-Weiss, and Apert syndromes in addition to
sporadic cases of Pfeiffer syndrome. 285 In addition, a
subset of Pfeiffer syndrome families have a common
mutation in the FGFR1 gene.
Carpenter Syndrome
Carpenter syndrome was originally described in
1901 by the man who lent it his name. Acrocephalopolysyndactyly
or Carpenter syndrome consists
of craniosynostosis, short fingers, soft tissue syndactyly,
preaxial polydactyly, congenital heart disease,
hypogenitalism, obesity, and umbilical hernia.
As many as 75% of patients have some degree of
intellectual impairment. 286
The craniofacial anomalies are those of brachycephaly
with variably severe synostosis of the coronal,
sagittal, and lambdoid sutures, such that the
calvarium is usually distorted and grossly asymmetrical,
approaching the kleeblattschadel anomaly.
Midfacial retrusion and dental malocclusion are less
pronounced than in Apert, and syndactyly is only
partial and usually simple. 273 This is one of the few
craniofacial malformation syndromes that is inherited
as an autosomal recessive.
Poole287 cautions surgeons contemplating surgery
on patients with Carpenter syndrome that they must
beware of the venous and bony abnormalities attendant
with this syndrome. The vascular anomalies
may lead to excessive and rapid blood loss.
Crouzon Syndrome
The French neurosurgeon Crouzon described the
disease that bears his name in 1912, at which time
he listed four essential characteristics: exorbitism,
retromaxillism, inframaxillism, and paradoxical
retrogenia288 (Fig 19). The estimated incidence is 1
in 25000 live births. 289 Inheritance is autosomal
SRPS Volume 10, Number 17, Part 2
dominant and occurrence is both sporadic and
familial.
Fig 19. Clinical presentation of a child with Crouzon syndrome.
Note exorbitism and hypertelorism, retromaxillism and midfacial
hypoplasia, pseudoprognathic mandible, and paradoxical retrogenia.
(Reprinted with permission from Buchman SR, Muraszko KM:
Syndromic Craniosynostosis. In: Lin KY, Ogle RC, Jane JA (eds),
Craniofacial Surgery. Science and Surgical Technique. Philadelphia,
WB Saunders, 2002; Ch 18, pp 252-271.)
There are many clinical variations of Crouzon disease,
often with one or more of the “typical” signs
missing. 290 The shape of the skull alone does not
differentiate Apert syndrome from Crouzon disease,
although Crouzon shows less severe deformity.
Crouzon is characterized by recession of the frontal
bone and supraorbital rim, retrusion of the facial
mass, exorbitism with proptosis, and hypoplasia of
the infraorbital rim. Unlike Apert syndrome,
hypertelorism and a bregmatic bump may not be
evident, the nose does not always deviate, and the
orbital deformities tend to be symmetrical. The orbits
are quite shallow, with hypoplastic and flat infraorbital
rims, distention of the eyelids, palpebral fissures
slanted downward, exophoria, and divergent strabismus;
50% of patients with Crouzon disease have
hyperactivity of the inferior oblique muscles. Crouzon
patients usually develop normal intelligence and limb
anomalies are absent. The mandible in Crouzon
disease, as in Apert, is considerably shorter than normal,
producing a distinctive ramus/body length ratio,
particularly in older patients. 291
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