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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?

1994; Wiley; Volume: 49; Issue: 2 Linguagem: Inglês

10.1002/ajmg.1320490211

1096-8628

Lesley C. Adès, Wayne Clapton, Arthur Morphett, Lloyd Morris, Eric Haan,

Congenital Anomalies and Fetal Surgery

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.