| Congenital knee dislocation in a 49,XXXXY boy. | |
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MedLine Citation:
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PMID: 7643364 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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R H Sijmons; A J van Essen; J D Visser; M Iprenburg; G F Nelck; M L Vos-Bender; B de Jong |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of medical genetics Volume: 32 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1995 Apr |
Date Detail:
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Created Date: 1995-09-18 Completed Date: 1995-09-18 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 309-11 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, University of Groningen, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics Adult Cells, Cultured Child Child, Preschool Chromosome Aberrations / genetics* Chromosome Banding Chromosome Disorders Dislocations / congenital*, genetics* Elbow Joint / abnormalities Female Hip Dislocation, Congenital / genetics Humans Infant Infant, Newborn Karyotyping* Knee Joint* / abnormalities Lymphocytes / cytology, physiology Male Pregnancy Shoulder Joint / abnormalities Thumb / abnormalities |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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