Extrahepatic biliary atresia and associated anomalies: Etiologic heterogeneity suggested by distinctive patterns of associations.
Carmi-R; Magee-CA; Neill-CA; Karrer-FM
American Journal of Medical Genetics 1993; 45(6):683-693
The 51 cases of extrahepatic biliary atresia (EHBA) which were found to have associated nonhepatobiliary anomalies, taken from a group of 251 cases of EHBA delineated in an earlier epidemiologic study, were studied. This group of 51 had been divided into three subgroups including group-I with 15 cases having various combinations of anomalies constituting the polysplenia sequence. Cardiovascular malformations were present in eight of these 15 and three of the eight had polysplenia. Polysplenia occurred in nine cases total in group-I and nine cases had intestinal malrotation. In group-II there were 30 patients in whom the associated anomalies did not follow any recognizable syndromic pattern or previously known sequence. The heart was involved in ten cases, the kidney and urinary tract in ten and the gastrointestinal tract in ten. Group- III consisted of six patients all of whom had intestinal malrotation, three of whom also had preduodenal portal vein. The authors suggest that EHBA within the first subgroup of patients may prove to be a suitable candidate for a major gene mutation. In patients with nonsyndromic organ system anomalies the teratogenic, infectious and polygenic multifactorial causes may be more important.
NIOSH-Publication; NIOSH-Grant; Reproductive-system-disorders; Epidemiology; Genotoxic-effects; Developmental-disorders; Gastrointestinal-system-disorders
Environmental Health Sciences Johns Hopkins Sch of Hygiene 615 North Wolfe Street Baltimore, MD 21205
Fertility and Pregnancy Abnormalities; Reproductive-system-disorders
American Journal of Medical Genetics
Johns Hopkins University, Baltimore, Maryland