Gursoy, SemraHazan, FilizOzturk, TulayAtes, Halil2023-01-122023-01-1220201661-87691661-8777https://doi.org/10.1159/000504829https://hdl.handle.net/11454/77674Myhre 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.en10.1159/000504829info:eu-repo/semantics/openAccessAxenfield Rieger anomalyEnlarged vestibular aqueductGlaucomaMyhre syndromeArticle106339343WOS:0005088457000082-s2.0-8507681219932021609Q4Q4