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Medical Term:

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

© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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