Congenital knee dislocation in a 49,XXXXY boy.
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.
Sijmons
R H
RH
Department of Medical Genetics, University of Groningen, The Netherlands.
van Essen
A J
AJ
Visser
J D
JD
Iprenburg
M
M
Nelck
G F
GF
Vos-Bender
M L
ML
de Jong
B
B
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D004551:Elbow Joint / Q000002:abnormalities; D005260:Female; D006618:Hip Dislocation, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D004204:Joint Dislocations / Q000151:congenital* / Q000235:genetics*; D007621:Karyotyping; D007719:Knee Joint / Q000002:abnormalities; D008214:Lymphocytes / Q000166:cytology / Q000502:physiology; D008297:Male; D011247:Pregnancy; D012785:Shoulder Joint / Q000002:abnormalities; D013933:Thumb / Q000002:abnormalities