[Holt-Oram syndrome associated with facial anomalies. A case report].

Abstract excerpt

Cardiomyelic syndromes have skeletal malformations of the upper limb and congenital heart disease, and are related to mutations in transcription factors with T-Box domains. Holt-Oram syndrome is characterized by upper-extremity malformations involving the radial, thenar, or carpal bones and congenital heart defects. It is inherited in an autosomal dominant manner, a mutation in TBX5 gene located on chromosome 12...

Topics

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

• Share to Abnormalities, Multiple
• Share to Child, Preschool
• Share to Face