Branchial arch malformations in infants of diabetic mothers: two case reports and a review

Am J Med Genet. 1982 Oct;13(2):125-30. doi: 10.1002/ajmg.1320130204.

Abstract

We describe two infants of diabetic mothers (IDMs) with branchial arch, vertebral, cardiovascular, and central nervous system malformations. Our observations support the hypothesis of Grix et al [1982] that branchial arch abnormalities may occur with increased frequency in children of diabetic mothers. Two other IDMs (a literature case with hemifacial microsomia and caudal regression, and a child we evaluated with ear abnormalities and the femoral hypoplasia-unusual facies syndrome) reinforce this suggested association. The latter two patients also demonstrate concurrence of branchial arch abnormalities with caudal regression and/or femoral hypoplasia, field defects known to be strongly associated with maternal diabetes mellitus. Genetic counseling for maternal diabetes mellitus probably should include information regarding all of these developmental abnormalities.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Diabetes Mellitus / genetics*
  • Ear / abnormalities
  • Face / abnormalities
  • Genetic Counseling
  • Humans
  • Infant, Newborn
  • Male