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Pseudoachondroplasia in a child with prolapse of the mitral valve
C Karakurt1, S Karademir, C Uner
1Dr. Sami Ulus Childrens' Hospital, Ankara, Turkey. ckarakurt@yahoo.com
Abstract:
Pseudoachondroplasia is an autosomal dominant variant of osteochondroplasia that results in mild to severe short-limb dwarfism and early-onset of osteoarthrosis. It has been linked to results from mutations in the gene for cartilage oligomeric matrix protein. We describe a 4-year-old boy with pseudoachondroplasia who also had prolapse of the mitral valve. To the best of our knowledge, this association has not previously been reported.
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