一名49,XXXXY男孩的先天性膝关节脱位。

Sijmons R H, van Essen A J, Visser J D, Iprenburg M, Nelck G F, Vos-Bender M L, de Jong B

Department of Medical Genetics, University of Groningen, The Netherlands.

J Med Genet. 1995 Apr;32(4):309-11. doi: 10.1136/jmg.32.4.309.

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.

我们报告了一名12岁的智力发育迟缓男孩，他出生时即出现双侧膝关节脱位、右髋关节脱位以及全身关节松弛。细胞遗传学研究显示其核型为49,XXXXY。已知49,XXXXY患者会出现关节过度松弛，但先天性膝关节脱位尚未见报道。在49,XXXXY和49,XXXXX综合征中，很少会出现类似拉森综合征的特征。患有先天性关节脱位或松弛并伴有其他畸形的患者，尤其是精神运动发育迟缓者，应进行核型分析以排除染色体异常。