A new syndrome with prenatally diagnosed thoracoschisis, hiatal hernia and extremities' agenesis: Case report


Biri A., Korucuoglu U., Turp A., Karaoguz M., Himmetoglu O., Balci S.

GENETIC COUNSELING, vol.17, no.2, pp.161-165, 2006 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 17 Issue: 2
  • Publication Date: 2006
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.161-165
  • Keywords: prenatally diagnosed thoracoschisis, Diaphragmatic hernia, amniotic band, forearm and hand agenesis, DIAPHRAGMATIC-HERNIA

Abstract

A new syndrome with prenatally diagnosed thoracoschisis, hiatal hernia and extremities' agenesis: a case report: Thoracoschisis is a very rare congenital anomaly and is usually associated with limb and abdominal wall defects forming part of limb-body wall complex. We here present a case of a 29-week-4-day pregnancy ended with intrauterine demise. Postmortem examination revealed hiatal hernia, thoracoschisis and protrusion of some part of liver from this defect, left forearm agenesis and right arm and right hand agenesis. The findings accompanying thoracoschisis in this presented case exclude any previously reported related syndrome and we believe that this is a new syndrome.