Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome
Küçük Resim Yok
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Karger
Erişim Hakkı
info:eu-repo/semantics/openAccess
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.
Açıklama
Anahtar Kelimeler
Axenfield Rieger anomaly, Enlarged vestibular aqueduct, Glaucoma, Myhre syndrome
Kaynak
Molecular Syndromology
WoS Q Değeri
Q4
Scopus Q Değeri
Q4
Cilt
10
Sayı
6
