Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome
Makaleler > Tam Makale · 2019
Yazarlar: Semra Gürsoy, Filiz Hazan, Tülay ÖZTÜRK ATASOY, HALİL ATEŞ
Molecular Syndromology, Uluslararası, Wos, 2019, cilt 10, ss 339-343
DOI: 10.1159/000504829
Özet
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.