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otospondylomegaepiphysial dysplasia


Definition: a skeletal dysplasia inherited as an autosomal recessive, caused by a mutation in the COL11A2 gene; characterized by short stature, large epiphyses, vertebral anomalies, and sensorineural deafness.

See Also: chondrodystrophy with sensorineural deafness

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.