Craniofacial Anomalies, Part 2 - Plastic Surgery Internal

mutations implicated in the craniosynostosis 173 ) with
complete fusion of the fingers and a free thumb.
The distal phalanx of the thumb is often broad.
Cutaneous syndactyly of all toes may be either simple
or complex. There is moderate to severe facial and
upper extremity acne.
Mental retardation is variously reported in association
with Apert syndrome, but it is unclear how
much of it is secondary to environmental influences.
Certainly many patients with Apert syndrome attain
a high level of mental function.
TABLE 5
Syndromic Craniosynostoses
SRPS Volume 10, Number 17, Part 2
(Reprinted with permission from Whitaker LA, Bartlett SP: Craniofacial Anomalies. In: Jurkiewicz MJ, Krizek TJ, Mathes SJ, Ariyan S (eds),
Plastic Surgery. Principles and Practice. St Louis, CV Mosby, 1990. Vol 1, Ch 7.)
Although head shape in Apert syndrome suggests
bicoronal synostosis, a postmortem study of the craniofacial
changes in the syndrome concluded that the
pathology is not primarily due to craniosynostosis but
rather stems from reduced growth potential of the
cranial base, leading to premature fusion of the midline
sutures from the occiput to the anterior nasal
spine 273 and resulting in severe calvarial, maxillary,
nasal, and mandibular abnormalities. Other autopsy
reports 277 suggest that basisphenoid synchondrosis
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