Chow B H, Loh S F, Yan Y L, Ang H K, Yeo G S
Department of Maternal Fetal Medicine, Kandang Kerbau Hospital, Singapore.
Singapore Med J. 1996 Aug;37(4):394-7.
Holoprosencephaly is a rare cerebral malformation resulting from failure or incomplete cleavage of the forebrain. The sonographic diagnosis consists of monoventricle, fused thalami and absent cavum septum pellucidi. Chromosomal anomalies, diabetes mellitus, alcohol, autosomal recessive inheritance and toxins have been implicated. We describe seven cases of holoprosencephaly diagnosed in the antenatal and postnatal periods. The chromosomal anomalies included trisomy 13, triploidy, trisomy 13 with an unbalanced 13; 14 translocation and isochromosome of the long arm of 18. The clinicopathological findings and chromosomal anomalies are correlated.
前脑无裂畸形是一种罕见的脑畸形，由前脑未能分裂或分裂不完全所致。超声诊断包括单脑室、丘脑融合和透明隔腔缺失。染色体异常、糖尿病、酒精、常染色体隐性遗传和毒素都与之有关。我们描述了7例产前和产后诊断的前脑无裂畸形病例。染色体异常包括13三体、三倍体、13三体合并13；14不平衡易位以及18号染色体长臂等臂染色体。对临床病理发现和染色体异常进行了相关性分析。
