title: New multiple congenital anomalies syndrome in a stillborn infant of consanguinous parents and a prediabetic pregnancy.
abstract: We report on a term stillborn female infant with multiple congenital anomalies (MCA) which have not previously been reported as occurring together. The malformations include a first and second branchial arch sequence, ectopia cordis with congenital heart defect, caudal "regression" sequence with absent sacrum and hypoplastic right femur, ectrodactyly, left radial abnormality, islet cell hyperplasia, and skin lesions. The pregnancy was complicated by abdominal cramping with exercise, heavy vaginal bleeding, maternal obesity, and a normal screening glucose tolerance test at 6 months gestation. The infant was born to 20-year-old G3P1SAB2 Mexican-American parents who are first cousins. There was strong maternal family history of adult-onset diabetes. The malformations have some findings in common with those seen in infants of diabetic mothers. Structural defects similar to, but not inclusive of, those in our infant have been reported in 2 sibs born to a prediabetic mother with a first cousin marriage as well as in focal dermal hypoplasia. Parental consanguinity is suggestive of an autosomal recessive disorder. Alternatively, it may represent a combined multifactorial effect making the conceptus more sensitive to metabolic teratogens and thus placing it at increased risk for disruption of normal development.
authors.affiliation: Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: M I
authors.initials: MI
authors.lastname: Van Allen
authors.forename: S
authors.initials: S
authors.lastname: Myhre
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002869:Chromosome Aberrations; D003241:Consanguinity; D005260:Female; D005313:Fetal Death / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011254:Pregnancy in Diabetics / Q000235:genetics*; D012307:Risk Factors