CRANIOFRONTONASAL SYNDROME - STUDY OF 41 PATIENTS

Of 41 patients with craniofrontonasal syndrome, 35 were female and 6 w ere male, Although most cases were sporadic, 7 familial instances were found, Craniofrontonasal syndrome represents a unique, incompletely u nderstood X-linked disorder, Unusual manifestations in females include d thick, wiry, and curly hair (49%), anterior cranium bifidum (6%), ax illary pterygia (9%), unilateral breast hypoplasia (postpubertal; 11%) , and asymmetric lower limb shortness (14%). (C) 1996 Wiley-Liss, Inc.