Craniofrontonasal syndrome: study of 41 patients.
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%).
Saavedra
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D
Research Department, Hospital General Dr. Manuel Gea González, Mexico City, Mexico.
Richieri-Costa
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A
Guion-Almeida
M L
ML
Cohen
M M
MM
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003398:Craniosynostoses / Q000175:diagnosis* / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D005260:Female; D008040:Genetic Linkage; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D014960:X Chromosome