Epiphysial dysplasia: a constant finding in the XXXXY syndrome.
Two patients with the XXXXY syndrome are presented. Both boys are mentally retarded with short stature, muscular hypotonia, and hypogonadism. A constant feature of this syndrome is a varying degree of epiphysial dysplasia probably secondary to hypotonia and growth deceleration.
D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D004838:Epiphyses / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012729:Sex Chromosome Aberrations; D012730:Sex Chromosomes; D013577:Syndrome; D014960:X Chromosome