Coincident DiGeorge anomaly and renal agenesis and its relation to maternal diabetes

Am J Med Genet. 1994 May 1;50(4):311-2. doi: 10.1002/ajmg.1320500402.


We describe 2 cases of DiGeorge anomaly with bilateral renal agenesis-one, who also had hemivertebrae, in an infant of an insulin-dependent diabetic mother (IDDM). In a review we identified 2 other instances of this combination, both in IDDMs. The currently accepted notion that DiGeorge anomaly and renal agenesis are developmental field defects, coupled with their coincidence in IDDM, suggests that this combination is an association.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / etiology*
  • Adolescent
  • DiGeorge Syndrome / etiology*
  • Diabetes Mellitus, Type 1 / complications*
  • Female
  • Humans
  • Infant, Newborn
  • Kidney / abnormalities*
  • Male
  • Pregnancy
  • Pregnancy in Adolescence
  • Pregnancy in Diabetics*
  • Spine / abnormalities