Congenital knee dislocation in a 49,XXXXY boy.

AUTOR(ES)

Sijmons, R H

RESUMO

We report on a 12 year old mentally retarded boy who presented at birth with bilateral knee dislocations, dislocation of the right hip, and general joint laxity. Cytogenetic studies showed a 49,XXXXY karyotype. Hyperlaxity of joints is known to occur in 49,XXXXY patients, but congenital knee dislocation has not been reported. Rarely in 49,XXXXY and 49,XXXXX syndromes Larsen-like features may be seen. Patients with congenital joint dislocation or laxity, combined with other malformations, especially if psychomotor development is delayed, should be karyotyped to exclude chromosomal abnormalities.

Documentos Relacionados

• 49,XXXXY syndrome: behavioural and developmental profiles.
• 49,XXXXY syndrome: behavioural and developmental profiles.
• Origin of the X chromosomes in a patient with the 49,XXXXY syndrome.
• The acrocallosal syndrome in a Turkish boy.
• Martsolf's syndrome in a non-Jewish boy.