Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.

ABSTRACT: Myhre syndrome is a rare autosomal dominant multisystemic disorder. Typical features of this disorder include distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, brachydactyly, and skeletal anomalies. Gain-of-function mutations in the SMAD4 gene are responsible for this syndrome. Herein, we present a 9.6-year-old Turkish girl with molecularly confirmed Myhre syndrome who had novel findings including bilateral Axenfield Rieger anomaly with secondary glaucoma and bilateral enlarged vestibular aqueducts.

SUBMITTER: Gursoy S 

PROVIDER: S-EPMC6995966 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature