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

GÜRSOY S., Hazan F., Öztürk T., Ateş H.

MOLECULAR SYNDROMOLOGY, cilt.10, sa.6, ss.339-343, 2020 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 10 Sayı: 6
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1159/000504829
  • Dergi Adı: MOLECULAR SYNDROMOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Sayfa Sayıları: ss.339-343
  • Anahtar Kelimeler: Axenfield Rieger anomaly, Enlarged vestibular aqueduct, Glaucoma, Myhre syndrome
  • Dokuz Eylül Üniversitesi Adresli: Evet

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.