Body wall defects in two sibs

Am J Med Genet. 1997 Nov 28;73(1):15-8. doi: 10.1002/(sici)1096-8628(19971128)73:1<15::aid-ajmg4>3.0.co;2-o.

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.

Publication types

  • Case Reports

MeSH terms

  • Abdominal Muscles / abnormalities*
  • Abdominal Muscles / embryology
  • Abdominal Muscles / pathology
  • Female
  • Fetus / abnormalities
  • Humans
  • Lumbar Vertebrae / abnormalities*
  • Lumbar Vertebrae / embryology
  • Lumbar Vertebrae / pathology
  • Male
  • Spinal Dysraphism / embryology*
  • Spinal Dysraphism / pathology