title: 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.affiliation: Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy. mcastori@scamilloforlanini.rm.it
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.forename: Evelina
authors.initials: E
authors.lastname: Silvestri
authors.forename: Sandra
authors.initials: S
authors.lastname: Cappellacci
authors.forename: Francesco
authors.initials: F
authors.lastname: Binni
authors.forename: Giovanna Scassellati
authors.initials: GS
authors.lastname: Sforzolini
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D000328:Adult; D016640:Diabetes, Gestational / Q000473:pathology*; D004480:Ectromelia / Q000150:complications* / Q000000981:diagnostic imaging; D017809:Fatal Outcome; D005260:Female; D005333:Fetus / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011859:Radiography