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Pseudoachondroplasia in a child with prolapse of the mitral valve

Published online by Cambridge University Press:  15 August 2006

Cemşit Karakurt
Affiliation:
Dr. Sami Ulus Childrens' Hospital, Ankara, Turkey
Selmin Karademir
Affiliation:
Dr. Sami Ulus Childrens' Hospital, Ankara, Turkey
Çiǧdem Üner
Affiliation:
Dr. Sami Ulus Childrens' Hospital, Ankara, Turkey

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.

Type
Brief Report
Copyright
2001 Cambridge University Press

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