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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 ,
Selmin Karademir  and
Çiǧdem Üner
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
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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.

Keywords

Short-limb dwarfismsystemic abnormalitiesprolapse of the leaflet
Type
Brief Report
Information
Cardiology in the Young , Volume 11 , Issue 5 , September 2001 , pp. 559 - 561
Copyright
2001 Cambridge University Press

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