التفاصيل البيبلوغرافية
| العنوان: |
Congenital knee dislocation in a 49,XXXXY boy. |
| المؤلفون: |
Sijmons, R H, van Essen, A J, Visser, J D, Iprenburg, M, Nelck, G F, Vos-Bender, M L, de Jong, B |
| المصدر: |
Journal of Medical Genetics; Apr1995, Vol. 32 Issue 4, p309-311, 3p, 2 Black and White Photographs, 1 Chart |
| مستخلص: |
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. [ABSTRACT FROM PUBLISHER] |
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| قاعدة البيانات: |
Complementary Index |
