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.

中文翻译：

---

Myhre综合征患者的新型眼部和内耳异常。

Myhre综合征是一种罕见的常染色体显性遗传多系统疾病。这种疾病的典型特征包括独特的面部外观，耳聋，智力障碍，心血管异常，身材矮小，肢体近距离发育和骨骼异常。SMAD4基因的功能获得性突变是导致这种综合征的原因。在此，我们介绍了一个具有分子确诊的Myhre综合征的9.6岁土耳其女孩，她有新发现，包括双侧Axenfield Rieger异常伴继发性青光眼和双侧扩大的前庭导水管。