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  • Title: [Prenatal diagnosis of holoprosencephaly with postaxial polydactyly, cardiopathy with normal karyotype].
    Author: Salamanca A, Padilla MC, Sabatel RM, Motos MA, Stemper K, Gonzalez-Gomez F.
    Journal: Geburtshilfe Frauenheilkd; 1992 Dec; 52(12):783-5. PubMed ID: 1490560.
    Abstract:
    Holoprosencephaly is a malformation complex, in which the foetal forebrain (prosencephalon) fails to cleave. The aetiology of holoprosencephaly is heterogeneous. In the last years, a new malformation syndrome has been described, including holoprosencephaly, postaxial polydactyly, congenital heart defects and normal karyotype. In this report, a new case of this syndrome, prenatally diagnosed, is discussed, based on ultrasound and foetal blood sampling. The important implications are pointed out in relation to adequate genetic counselling.
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