CONGENITAL KNEE DISLOCATION IN A 49,XXXXY BOY
| Autor: | B de Jong, Rolf H. Sijmons, M Iprenburg, J D Visser, M L Vos-Bender, A. J. van Essen, G F Nelck |
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| Přispěvatelé: | Faculteit Medische Wetenschappen/UMCG, Guided Treatment in Optimal Selected Cancer Patients (GUTS) |
| Jazyk: | angličtina |
| Rok vydání: | 1995 |
| Předmět: |
Adult
Male musculoskeletal diseases medicine.medical_specialty Knee Joint Joint Dislocations Aneuploidy Chromosome Disorders Mentally retarded Biology Joint laxity Pregnancy Elbow Joint Genetics medicine Humans Abnormalities Multiple Lymphocytes Joint dislocation Child Hip Dislocation Congenital Cells Cultured Genetics (clinical) Chromosome Aberrations Psychomotor learning Shoulder Joint Knee Dislocation Infant Newborn Infant Anatomy medicine.disease Chromosome Banding Surgery Congenital knee dislocation Thumb Child Preschool Karyotyping Female Research Article |
| Zdroj: | JOURNAL OF MEDICAL GENETICS, 32(4), 309-311. BMJ PUBLISHING GROUP |
| ISSN: | 0022-2593 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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