Body wall defects in two sibs

ATJM HeldermanvandenEnden*, MM Bartelings, IL vanKamp, JC Oosterwijk

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

7 Citations (Scopus)

Abstract

We describe 2 sibs, a male fetus with an unusual lumbar hernia and spina bifida occulta, and a female fetus with a median abdominoschisis. The first fetus had some signs of lumbocostovertebral syndrome (LCVS), which consists of a congenital lumbar hernia and associated abnormalities such as absent or hypoplastic ribs, hemivertebrae, and scoliosis, Abdominoschisis has not been described in LCVS, and the given abnormalities in the 2 sibs have not been published to date. One can hypothesize that vascular disruption of a somite or a group of somites may result in the described abdominal wall defects, We conclude that these abnormalities could be coincidental in the 2 sibs or could have a related, probably multifactorial, cause. (C) 1997 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)15-18
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume73
Issue number1
Publication statusPublished - 28-Nov-1997

Keywords

  • abdominal wall defect
  • lumbar hernia
  • lumbocostovertebral syndrome
  • spina bifida occulta
  • autosomal-recessive inheritance
  • recurrence risk
  • FAMILIAL OMPHALOCELE
  • GASTROSCHISIS
  • HERNIA
  • RISK

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