Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: A new multiple …
LC Ades, WK Clapton, A Morphett… - American journal of …, 1994 - Wiley Online Library
LC Ades, WK Clapton, A Morphett, LL Morris, EA Haan
American journal of medical genetics, 1994•Wiley Online LibraryWe describe a 27‐week fetus with occipitoschisis, polydactyly, campomelia, cleft palate,
laryngeal dysplasia, ocular colobomata, hepatic fibrosis and intrahepatic cyst, ambiguous
genitalia, cystic dyslstic 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.© 1994 Wiley‐Liss, Inc.
laryngeal dysplasia, ocular colobomata, hepatic fibrosis and intrahepatic cyst, ambiguous
genitalia, cystic dyslstic 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.© 1994 Wiley‐Liss, Inc.
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 dyslstic 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. © 1994 Wiley‐Liss, Inc.
Wiley Online Library以上显示的是最相近的搜索结果。 查看全部搜索结果