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