Sirenomelia and VACTERL association in the offspring of a woman with diabetes.

Abstract

Sirenomelia and VACTERL association are defects of blastogenesis of unknown cause. Although they appear clinically distinct, some epidemiological and experimental studies suggest a common pathogenetic mechanism. We report on the reproductive history of a 28-year-old obese, diabetic mother who had three pregnancies. The first resulted in the birth of a sirenomelic child, the second in a miscarriage, while the third was terminated for fetal malformations, diagnosed post-mortem as VACTERL association. This observation supports the relationship between sirenomelia and VACTERL, which probably represent the two ends of the same phenotypic spectrum. Their occurrence in the same sibship also indicates a possible common cause. The coexistence with maternal diabetes seems more than a chance occurrence and the constellation of malformations observed in the present family may be explained as the pleiotropic effect of the same teratogenic agent interacting with genetic predisposition to diabetes and/or obesity.

• Authors: Marco Castori, Evelina Silvestri, Sandra Cappellacci, Francesco Binni, Giovanna Scassellati Sforzolini, Paola Grammatico
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 152A Issue 7 Pg. 1803-7 (Jul 2010) ISSN: 1552-4833 [Electronic] United States
• PMID: 20583159 (Publication Type: Case Reports, Journal Article)
• Copyright: (c) 2010 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (diagnostic imaging, pathology)
• Adult
• Diabetes, Gestational (pathology)
• Ectromelia (complications, diagnostic imaging)
• Fatal Outcome
• Female
• Fetus (abnormalities, diagnostic imaging)
• Humans
• Infant, Newborn
• Male
• Pregnancy
• Radiography