advertisement
Abstract #85093 Published in IGR 21-1
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome
Gürsoy S; Hazan F; Öztürk T; Ateş HMolecular syndromology 2020; 10: 339-343
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 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.
Department of Pediatric Genetics, Dr. Behcet Uz Children's Hospital, Izmir, Turkey.
Full articleClassification:
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)