André S A, Cordier M P, Beaufrère A M, Guillaud M, Robert J M
Service de Génétique, Hôtel-Dieu, Lyon.
J Genet Hum. 1988 Dec;36(5):463-8.
We present a foetus, 46,XY, with holoprosencephaly, hydrocephaly, unilateral lower limb post axial polydactyly, clubhands, auricular septal defect, umbilical cord hernia. The differential diagnosis of the condition is discussed: especially the hydrolethalus syndrome, and the Young and Madders' syndrome reported in 1987.
我们报告一例46，XY胎儿，患有前脑无裂畸形、脑积水、单侧下肢轴后多指畸形、屈曲手、房间隔缺损、脐疝。文中讨论了该病症的鉴别诊断：尤其是致死性水囊瘤综合征，以及1987年报道的扬氏和马德斯综合征。
