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Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly
Author(s) -
ThauvinRobinet Christel,
Rousseau Thierry,
Durand Christine,
Laurent Nicole,
Maingueneau Catherine,
Faivre Laurence,
Sagot Paul,
NivelonChevallier Annie
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.92
Subject(s) - porencephaly , agenesis of the corpus callosum , medicine , agenesis , polymicrogyria , prenatal diagnosis , hydranencephaly , corpus callosum agenesis , corpus callosum , schizencephaly , abnormality , cerebellar vermis , fetus , pathology , pediatrics , anatomy , pregnancy , radiology , cerebellum , biology , magnetic resonance imaging , genetics , psychiatry
Porencephaly is a rare central nervous system (CNS) abnormality that can be caused by an intraparenchymal destructive process or a developmental defect. Here we report on a prenatal ultrasound diagnosis of complex CNS abnormalities including agenesis of the corpus callosum, agenesis of the cerebellar vermis, bilateral hydrocephaly, and bilateral porencephaly in fetus at 33 weeks' gestation. The diagnosis of familial orofaciodigital syndrome type I (OFD I) was raised after fetal autopsy, clinical examination of the family, and the X‐linked dominant inheritance pattern. This is the fourth report of porencephaly in association with OFD I. We discuss the difficulties in genetic counselling since OFD I shows variable expressivity of the phenotypic features. Furthermore, we emphasize the importance of a detailed ultrasound examination after a prenatal diagnosis of porencephaly. Copyright © 2001 John Wiley & Sons, Ltd.