DEJONG, B

IPRENBURG, M

NELCK, GF

SIJMONS, RH

VANESSEN, AJ

VISSER, JD

VOSBENDER, ML

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.</p

CONGENITAL KNEE DISLOCATION IN A 49,XXXXY BOY

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Proceedings - University of Groningen