Thauvin-Robinet C, Rousseau T, Durand C, Laurent N, Maingueneau C, Faivre L, Sagot P, Nivelon-Chevallier A
Centre de Génétique, Hôpital d'Enfants, Dijon, France.
Prenat Diagn. 2001 Jun;21(6):466-70. doi: 10.1002/pd.92.
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.
脑穿通畸形是一种罕见的中枢神经系统（CNS）异常，可由脑实质内的破坏性过程或发育缺陷引起。在此，我们报告一例孕33周胎儿中枢神经系统复杂异常的产前超声诊断，包括胼胝体发育不全、小脑蚓部发育不全、双侧脑积水和双侧脑穿通畸形。经胎儿尸检、家族临床检查及X连锁显性遗传模式，诊断为I型家族性口面指综合征（OFD I）。这是第四例与OFD I相关的脑穿通畸形报告。我们讨论了遗传咨询的困难，因为OFD I的表型特征表现出可变的表达性。此外，我们强调产前诊断脑穿通畸形后进行详细超声检查的重要性。
