Prenatal diagnosis, phenotypic and obstetric characteristics of holoprosencephaly.

Abstract:

:The diagnosis of fetal malformations, especially those of the central nervous system, is strikingly important in the practice of genetic counseling. Early diagnosis is very significant, not only because of the prognosis, but also because of the emotional effects caused by the accompanying craniofacial malformations. The summary of the obstetrical and diagnostical characteristics should be useful in the management of holoprosencephaly. The analysis of the 50 cases we encountered between 1981 and 2000, including the anatomical, diagnostic and clinical aspects, as well as the associated craniofacial malformations, forms the essence of our publication. In one of the examined cases a familiar recurrence was verified.

journal_name

Fetal Diagn Ther

authors

Joó GJ,Beke A,Papp C,Tóth-Pál E,Szigeti Z,Bán Z,Papp Z

doi

10.1159/000083897

keywords:

subject

Has Abstract

pub_date

2005-05-01 00:00:00

pages

161-6

issue

3

eissn

1015-3837

issn

1421-9964

pii

83897

journal_volume

20

pub_type

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