Report of a family with craniofrontonasal syndrome.

Abstract excerpt

Craniofrontonasal syndrome (CFNS, OMIM 304110) paradoxically presents a severe phenotype in heterozygous females and a mild or a normal phenotype in hemizygous males. Hypertelorism is seen in almost all of the female CFNS patients; craniosynostosis, facial asymmetry, and bifid nose are the other major clinical features. Most of the males are mildly affected, frequently only with hypertelorism. Here, we report a...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to Craniofacial Abnormalities
• Share to Craniosynostoses