Schmidt R, Pajewski M, Rosenblatt M
J Med Genet. 1978 Aug;15(4):282-7. doi: 10.1136/jmg.15.4.282.
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.
本文报告了两名患有XXXXY综合征的患者。两名男孩均智力发育迟缓,身材矮小,肌张力减退,并伴有性腺功能减退。该综合征的一个常见特征是不同程度的骨骺发育异常,可能继发于肌张力减退和生长减速。