Coskun A, Kiran G, Ozdemir O
Medical School, Department of Obstetrics and Gynecology, Yoruk Selim Mah, Kahramanmaras, Turkey.
Fetal Diagn Ther. 2009;25(1):21-5. doi: 10.1159/000188662. Epub 2009 Jan 8.
To discuss a fetus with craniorachischisis diagnosed antenatally and to review the literature.
Case report.
Craniorachischisis was detected on ultrasound scan in a fetus at gestational week 13. Pregnancy was terminated and diagnosis was verified postnatally.
Craniorachischisis is a rare and severe form of neural tube defects (NTDs). The majority of currently known cases of mouse craniorachischisis have been found to result from disturbance of a single molecular signaling cascade, called planar cell polarity pathway (PCP). The mutant genes that have been causative in disturbance of PCP in mouse models have been examined in human malformations but none of them have so far been implicated in human craniorachischisis. To date, no other genes except the gene encoding 5,10-methylenetetrahydrofolate reductase have been specifically implicated in predisposition to NTDs. We suggest that other PCP genes should be considered as candidates for a role in the etiology of human NTDs. Further investigations are therefore necessary.
探讨一例产前诊断为脊柱裂无脑儿的胎儿并复习相关文献。
病例报告。
孕13周时超声检查发现一胎儿患有脊柱裂无脑儿。终止妊娠后，产后确诊。
脊柱裂无脑儿是神经管缺陷（NTDs）的一种罕见且严重的形式。目前已知的大多数小鼠脊柱裂无脑儿病例已被发现是由一种称为平面细胞极性通路（PCP）的单一分子信号级联紊乱引起的。在人类畸形中已经研究了在小鼠模型中导致PCP紊乱的突变基因，但到目前为止，它们都与人类脊柱裂无脑儿无关。迄今为止，除了编码5,10-亚甲基四氢叶酸还原酶的基因外，没有其他基因被特别认为与NTDs的易感性有关。我们建议应将其他PCP基因视为在人类NTDs病因中起作用的候选基因。因此，有必要进行进一步的研究。
