Kousseff B G
Pediatrics. 1984 Sep;74(3):395-8.
Three of four siblings had sacral meningocele with subsequent development of hydrocephaly; two died during the neonatal period due to conotruncal heart defects (transposition of the great vessels and truncus arteriosus type I, respectively). An in utero diagnosis of open neural tube defect was made on the third sibling; persistent slightly elevated alpha-fetoprotein levels in amniotic fluid and increased number of rapidly adhering cells in short term amniotic cell culture were found. The unique combination of sacral meningocele and conotruncal malformations in this sibship suggests a new autosomal recessive condition. It also emphasizes the heterogeneity of both the open neural tube defects and congenital heart defects. Awareness of this variant is necessary in regard to the 25% recurrence risk instead of the 3% to 5% recurrence risk given for both congenital heart defects and open neural tube defects as isolated anomalies. The difficult prenatal diagnosis for the small neural tube defect should be appreciated.
四个兄弟姐妹中有三个患有骶部脑脊膜膨出并随后发展为脑积水；其中两个在新生儿期因圆锥动脉干心脏缺陷（分别为大动脉转位和I型共同动脉干）死亡。对第三个兄弟姐妹进行了产前开放性神经管缺陷诊断；发现羊水甲胎蛋白水平持续轻度升高，且短期羊水细胞培养中快速黏附细胞数量增加。这个家族中骶部脑脊膜膨出和圆锥动脉干畸形的独特组合提示一种新的常染色体隐性疾病。这也强调了开放性神经管缺陷和先天性心脏缺陷的异质性。鉴于先天性心脏缺陷和开放性神经管缺陷作为孤立异常时的复发风险为3%至5%，而此变异的复发风险为25%，认识到这一变异很有必要。对于小型神经管缺陷的产前诊断困难也应予以重视。
