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Am J Med Genet. 1996 Jan 11;61(2):147-51.

Craniofrontonasal syndrome: study of 41 patients.

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Research Department, Hospital General Dr. Manuel Gea González, Mexico City, Mexico.


Of 41 patients with craniofrontonasal syndrome, 35 were female and 6 were male. Although most cases were sporadic, 7 familial instances were found. Craniofrontonasal syndrome represents a unique, incompletely understood X-linked disorder. Unusual manifestations in females included thick, wiry, and curly hair (49%), anterior cranium bifidum (6%), axillary pterygia (9%), unilateral breast hypoplasia (postpubertal; 11%), and asymmetric lower limb shortness (14%).

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