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  • Title: 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?
    Author: Adès LC, Clapton WK, Morphett A, Morris LL, Haan EA.
    Journal: Am J Med Genet; 1994 Jan 15; 49(2):211-7. PubMed ID: 8116671.
    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.
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