Literature DB >> 16970033

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

A Biri1, U Korucuoğlu, A Turp, M Karaoğuz, O Himmetoğlu, S Balci.   

Abstract

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.

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Mesh:

Year:  2006        PMID: 16970033

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  6 in total

1.  Thoracoschisis with limb agenesis.

Authors:  Nirmal C Bhattacharyya; Manoj Gogoi; Pradip K Deuri
Journal:  J Indian Assoc Pediatr Surg       Date:  2012-04

2.  Isolated Thoracoschisis: Case Report and Review of Literature.

Authors:  Hamed Mahmoud Seleim; Mahmoud M A ElFiky; Ahmed E Fares; Mohamed M Elbarbary
Journal:  European J Pediatr Surg Rep       Date:  2014-12-03

3.  A Rare Case of Thoracoschisis.

Authors:  Jamie Harris; Yanmin Zhang; Saurabh Patel; Benjamin Dille; Steven Garzon; Justin H Lee; Bill Chiu
Journal:  J Neonatal Surg       Date:  2017-08-10

4.  Thoracoschisis associated with Limb Body Wall Complex.

Authors:  Dragana Vujovic; Aleksandar Sretenovic; Maja Raicevic; MarijaLukac MarijaLukac; Tamara Krstajic; Vesna Ljubic; Sanja Sindjic Antunovic
Journal:  APSP J Case Rep       Date:  2017-05-01

5.  Prenatal Diagnosis of Thoracoschisis and Review of Literature.

Authors:  Hasaruddin R Hanafi; Zahar A Zakaria
Journal:  Case Rep Obstet Gynecol       Date:  2017-11-16

6.  Isolated Thoracoschisis with Rib Agenesis and Liver Herniation: A Case Report.

Authors:  Tyler B Masden; Atenasio Taela; Massada da Rocha; Donald C Moores; Andrei Radulescu
Journal:  Am J Case Rep       Date:  2019-12-21
  6 in total

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