Ontology highlight
ABSTRACT:
SUBMITTER: Gana S
PROVIDER: S-EPMC6656857 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Gana Simone S Valetto Angelo A Toschi Benedetta B Sardelli Irene I Cappelli Susanna S Peroni Diego D Bertini Veronica V
Frontiers in genetics 20190718
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 disorders have been described as clinically distinct entities, but molecular studies have ...[more]