title: Congenital malformations associated with anencephaly in liveborn and stillborn infants.
abstract: Records from the population-based British Columbia Health Surveillance Registry were examined, and a total of 456 infants with anencephaly (181 liveborns, 275 stillborns) were identified. Registry records list up to four congenital malformations per individual, and the records of the study cohort were reviewed for the presence of additional malformations. A total of 12.7% of infants (14.4% liveborns, 11.6% stillborns) had congenital malformations in addition to anencephaly. The frequencies of specific congenital malformations (e.g., talipes, cleft lip and/or palate, omphalocele) in infants with anencephaly were compared with the frequencies of these malformations in the general population of liveborns. In addition, the types of additional congenital malformations in liveborn anencephalics compared to stillborns were looked at. The similarity suggests that it is not just the presence of these additional congenital malformations that leads to death in utero. The data provide further evidence for etiological heterogeneity in neural tube defects.
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000311:Adrenal Glands / Q000002:abnormalities; D000757:Anencephaly / Q000150:complications* / Q000473:pathology; D002971:Cleft Lip / Q000150:complications; D002972:Cleft Palate / Q000150:complications; D003025:Clubfoot / Q000150:complications; D005260:Female; D005313:Fetal Death / Q000473:pathology; D006554:Hernia, Umbilical / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy