Toudic L, L'Henoret G, Rivière D, L'Hour M, Castel Y
Arch Fr Pediatr. 1982 Apr;39(4):247-9.
A child with the 49 XXXXY syndrome is presented. Diagnosis was possible early in life, because of craniofacial anomalies and congenital cardiac malformations. The main symptoms are growth retardation, craniofacial abnormalities, hypogonadism, frequent bone lesions and severe mental retardation.
本文报告了一名患有49,XXXXY综合征的儿童。由于颅面畸形和先天性心脏畸形，在其幼年时即可做出诊断。主要症状包括生长发育迟缓、颅面异常、性腺功能减退、频繁的骨病变和严重智力障碍。
