Clinical and Radiological Diagnosis of Rarely Seen OSMED Syndrome

Abstract

Otospondylomegaepiphyseal dysplasia (OSMED) (MIM 215150) is an autosomal recessive syndrome. It is a skeletal dysplasia characterized by multiple skeletal anomalies, flat nasal bridge, mid-face hypoplasia, anteverted nostrils and sensorineural hearing loss. In this case report, we evaluated a 3-year-old Turkish girl born to consanguineous parents. She had a medical history of bilateral sensorineural hearing loss, frontal bossing and strabismus. The radiographic findings supported OSMED syndrome with her phenotype. Our aim was to facilitate the early diagnosis of this rarely seen syndrome and to contribute to the natural history of patients with OSMED syndrome.




J Med Cases. 2016;7(5):161-163
doi: http://dx.doi.org/10.14740/jmc2431w