Zhang J, Yang T, Wang X, Yu H
Clin Exp Obstet Gynecol. 2015;42(1):114-6.
Holoprosencephaly (HPE), a complex brain malformation resulting from incomplete cleavage of the prosencephalon into distinct cerebral hemispheres, is rare in newborns. Two preterm male neonates were born at 34 weeks' and five days' gestation in the monochorionic diamniotic twin pregnancy complicated with pre-eclampsia and intrahepatic cholestasis of pregnancy, and one of them was prenatally diagnosed with alobar HPE by ultrasonography with frontal bossing, hydrocephaly, hypotelorism of eyes, flat nasal bridge, macroglossia, and cheilo/palatoschisis at birth. Karyotyping by G-banding of amniocentesis specimens in normal twin and fetal umbilical blood in both fetuses showed 46, XY. This report expands discordant alobar holoprosencephaly in monochorionic diamniotic twins.
前脑无裂畸形（HPE）是一种因前脑未能完全分裂成两个不同的大脑半球而导致的复杂脑畸形，在新生儿中较为罕见。在一例单绒毛膜双羊膜囊双胎妊娠合并子痫前期及妊娠肝内胆汁淤积症的病例中，两名男性早产儿于孕34周零5天出生，其中一名在出生时通过超声检查产前诊断为无叶型HPE，伴有前额突出、脑积水、眼距过窄、鼻梁扁平、巨舌症及唇腭裂。对正常双胎的羊水穿刺标本及两个胎儿的胎儿脐血进行G显带核型分析，结果均显示为46, XY。本报告扩展了单绒毛膜双羊膜囊双胎中不一致性无叶型前脑无裂畸形的病例。
