[Prenatal diagnosis of holoprosencephaly with postaxial polydactyly, cardiopathy with normal karyotype].

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.

authors

Salamanca A,Padilla MC,Sabatel RM,Motos MA,Stemper K,Gonzalez-Gomez F

doi

10.1055/s-2007-1023813

keywords:

subject

Has Abstract

pub_date

1992-12-01 00:00:00

pages

783-5

issue

12

eissn

0016-5751

issn

1438-8804

journal_volume

52

pub_type

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