Body wall defects in two sibs.
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.
Helderman-van den Enden
A T
AT
Department of Clinical Genetics, University Hospital Leiden, The Netherlands.
Bartelings
M M
MM
van Kamp
I L
IL
Oosterwijk
J C
JC
D000009:Abdominal Muscles / Q000002:abnormalities* / Q000196:embryology / Q000473:pathology; D005260:Female; D005333:Fetus / Q000002:abnormalities; D006801:Humans; D008159:Lumbar Vertebrae / Q000002:abnormalities* / Q000196:embryology / Q000473:pathology; D008297:Male; D016135:Spinal Dysraphism / Q000196:embryology* / Q000473:pathology