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Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005). [from OMIM]
Aplasia/Hypoplasia of the capital femoral epiphysis
Absence or underdevelopment of the proximal epiphysis of the femur. [from HPO]
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