Article Text

PDF

Congenital knee dislocation in a 49,XXXXY boy.
  1. R H Sijmons,
  2. A J van Essen,
  3. J D Visser,
  4. M Iprenburg,
  5. G F Nelck,
  6. M L Vos-Bender,
  7. B de Jong
  1. Department of Medical Genetics, University of Groningen, The Netherlands.

    Abstract

    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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.