Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly

Porencephaly is a rare central nervous system (CNS) abnormality that call b e caused by an intraparenchymal destructive process or a developmental defe ct. Here we report on a prenatal ultrasound diagnosis of complex CNS abnorm alities including agenesis of the corpus callosum. agenesis of the cerebell ar vermis, bilateral hydrocephaly, and bilateral porencephaly in fetus at 3 3 weeks' gestation. The diagnosis of familial orofaciodigital syndrome type I (OFD I) was raised after fetal autopsy, clinical examination of the fami ly, and the X-linked dominant inheritance pattern. This is the fourth repor t of porencephaly in association with OFD I. We discuss the difficulties in genetic counselling since OFD I shows variable expressivity of the phenoty pic features. Furthermore, we emphasize the importance of a detailed ultras ound examination after a prenatal diagnosis of porencephaly. Copyright (C) 2001 John Wiley & Sons, Ltd.