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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

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

Gürsoy Semra S Hazan Filiz F Öztürk Tülay T Ateş Halil H

Molecular syndromology 20191220 6

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 <i>SMAD4</i> 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 anom ...[more]

PMID: 32021609

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