Bachman H, Clark R D, Salahi W
Department of Pediatrics, Harbor-UCLA Medical Center, Torrance 90502.
J Med Genet. 1990 Jan;27(1):50-2. doi: 10.1136/jmg.27.1.50.
We report two fetuses with hydrocephalus, features of holoprosencephaly, and postaxial polydactyly born to a consanguineous Mexican-American couple. The phenotype is consistent with the hydrolethalus syndrome, although holoprosencephaly has not previously been seen in this condition. We believe other similar cases with a trisomy 13 phenotype but normal chromosomes may also have the hydrolethalus syndrome.
我们报告了一对近亲结婚的墨西哥裔美国夫妇所生的两名患有脑积水、全前脑畸形特征和轴后多指畸形的胎儿。尽管此前在这种情况下未见过全前脑畸形，但该表型与水脑致死综合征一致。我们认为，其他具有13三体综合征表型但染色体正常的类似病例也可能患有水脑致死综合征。
