Suppr超能文献

Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV?

作者信息

Adès L C, Clapton W K, Morphett A, Morris L L, Haan E A

机构信息

Department of Medical Genetics, Women's and Children's Hospital (Adelaide Children's Hospital Division), North Adelaide, South Australia.

出版信息

Am J Med Genet. 1994 Jan 15;49(2):211-7. doi: 10.1002/ajmg.1320490211.

Abstract

We describe a 27-week fetus with occipitoschisis, polydactyly, campomelia, cleft palate, laryngeal dysplasia, ocular colobomata, hepatic fibrosis and intrahepatic cyst, ambiguous genitalia, cystic dysplastic kidneys, and brain malformation. This pattern of abnormalities appears unique. The differential diagnosis is discussed. The parents are first cousins, making autosomal recessive inheritance likely.

摘要

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验