Pseudoachondroplasia in a child with prolapse of the mitral valve.
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.
Karakurt
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Dr. Sami Ulus Childrens' Hospital, Ankara, Turkey. ckarakurt@yahoo.com
Karademir
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S
Uner
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C
D002675:Child, Preschool; D004452:Echocardiography; D006801:Humans; D008297:Male; D008945:Mitral Valve Prolapse / Q000150:complications* / Q000000981:diagnostic imaging; D010009:Osteochondrodysplasias / Q000150:complications*