Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome

Abstract excerpt

We report on a 34-year old woman and her mother who both have clinical features suggestive for otofaciocervical syndrome (OTFCS), a disorder characterized by a combination of facial dysmorphisms , ear abnormalities with hearing loss and shoulder girdle anomalies. OTFCS presents overlapping features with branchiootorenal spectrum disorders , including branchiootorenal syndrome and branchiootic syndrome . These...

Topics

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

• Share to Congenital heart defects research
• Share to Head and Neck Anomalies
• Share to Protist diversity and phylogeny