美人鱼综合征的病因异质性。

Etiological heterogeneity in sirenomelia.

作者信息

Young I D, O'Reilly K M, Kendall C H

出版信息

Pediatr Pathol. 1986;5(1):31-43. doi: 10.3109/15513818609068846.

Abstract

Two babies with sirenomelia are described. Case 1, one of twins, showed the full sirenomelia sequence in conjunction with atelencephaly and cebocephaly. Case 2 had malformations consistent with a diagnosis of the VATER association. Review of the literature indicates that the basic defect in sirenomelia and the VATER association lies in the formation and differentiation of mesodermal tissue and that sirenomelia, the VATER association, and monozygotic twinning show a complex etiological interrelationship.

摘要

本文描述了两名患有并腿畸形的婴儿。病例1为双胞胎之一，表现出完全性并腿畸形序列，同时伴有脑发育不全和鼻眼发育不全。病例2的畸形符合VATER综合征的诊断。文献回顾表明，并腿畸形和VATER综合征的基本缺陷在于中胚层组织的形成和分化，并且并腿畸形、VATER综合征和单卵双胎显示出复杂的病因学相互关系。