Lower mesodermal defects: a common cause of fetal and early neonatal death

Am J Med Genet. 1994 Apr 1;50(2):154-72. doi: 10.1002/ajmg.1320500206.


Among the first 1,130 referrals to the Wisconsin Stillbirth Service Program 17 infants have been recognized to share phenotypic characteristics involving the genital, urinary, lower gastrointestinal, and axial skeletal systems. The pattern of abnormalities identified appears to be limited to structures sharing a common embryologic origin. These features, for the most part, are shown to be non-randomly associated. No clearly definable sub-groups within this population are demonstrable. The pattern of abnormalities is defined to include abnormalities of the following structures as pathogenetically primary features: lumbosacral vertebrae, kidneys, ureters, uterus/fallopian tubes, vagina, bladder, urethra, adrenals, gonads, anorectum, external genitalia, and umbilical arteries. An embryologic mechanism is proposed which explains this non-random association as arising secondary to disruption of structures derived from the lower portion of the primitive intraembryonic mesoderm. The Lower Mesodermal Defects Sequence appears to be a rather common (and under-recognized) cause of stillbirth and immediate neonatal death.

Publication types

  • Review

MeSH terms

  • Adrenal Glands / abnormalities
  • Female
  • Fetal Death / diagnostic imaging
  • Fetal Death / etiology*
  • Fetal Death / genetics
  • Fetal Death / prevention & control
  • Fetus / abnormalities*
  • Genitalia / abnormalities
  • Humans
  • Kidney / abnormalities
  • Male
  • Mesoderm / pathology*
  • Phenotype
  • Radiography
  • Rectum / abnormalities
  • Spine / abnormalities
  • Umbilical Arteries / abnormalities
  • Ureter / abnormalities
  • Urinary Bladder / abnormalities