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

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.

• Authors: J P Johnson, R M Fineman
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 13 Issue 2 Pg. 125-30 (Oct 1982) ISSN: 0148-7299 [Print] United States
• PMID: 6753584 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S., Review)

Topics

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