Orstavik K H, Steen-Johnsen J, Foerster A, Fjeld T, Skullerud K, Lie S O
Department of Medical Genetics, Ullevaal University Hospital, Oslo, Norway.
Am J Med Genet. 1992 Aug 1;43(6):1035-8. doi: 10.1002/ajmg.1320430625.
We report on a female infant with lethal congenital malformations including extreme hydrocephalus due to aqueductal stenosis, vertebral segmentation anomalies, fused costae, anal atresia, renal dysplasia, and bicornuate uterus with a double blind vagina. The VACTERL and the MURCS associations are possible diagnoses. Her father had a neurenteric cyst in infancy. He has identical vertebral and costal malformations as his daughter but is otherwise healthy. The possibility of dominant inheritance with gonosomal mosaicism in the father is discussed.
我们报告了一名患有致命先天性畸形的女婴，包括因导水管狭窄导致的严重脑积水、椎体节段异常、肋骨融合、肛门闭锁、肾发育不全以及双角子宫伴双盲阴道。VACTERL和MURCS协会综合征是可能的诊断。她的父亲在婴儿期患有神经肠囊肿。他与女儿有相同的椎体和肋骨畸形，但其他方面健康。本文讨论了父亲存在性染色体镶嵌显性遗传的可能性。
