Craniofrontonasal Syndrome: Study of 41 Patients

Overview

Journal Am J Med Genet

Specialty Genetics

Date 1996 Jan 11

PMID 8669441

Citations 11

Authors

D Saavedra

A Richieri-Costa

M M Cohen Jr

Affiliations

Soon will be listed here.

Abstract

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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