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Pseudoachondroplasia in a child with prolapse of the mitral valve
Cemşit Karakurt, Selmin Karademir, Çiǧdem Üner
Journal:

Cardiology in the Young / Volume 11 / Issue 5 / September 2001

Published online by Cambridge University Press:

15 August 2006, pp. 559-561
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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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Pseudoachondroplasia in a child with prolapse of the mitral valve