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

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... 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.