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chondrodystrophy with sensorineural deafness

 

Definition: a skeletal dysplasia characterized by dwarfism, flat nasal bridge, cleft palate, sensorineural deafness, large epiphyses, and flattening of the vertebral bodies; autosomal recessive inheritance, caused by mutation in the type XI collagen gene (COL11A2) on chromosome 6p; dominant forms exist.

Synonym(s): Nance-Insley syndrome, Nance-Sweeney chondrodysplasia, OSMED

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