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Extrahepatic biliary atresia and associated anomalies: Etiologic heterogeneity suggested by distinctive patterns of associations.

Authors
Carmi-R; Magee-CA; Neill-CA; Karrer-FM
Source
American Journal of Medical Genetics 1993; 45(6):683-693
NIOSHTIC No.
00232613
Abstract
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.
Keywords
NIOSH-Publication; NIOSH-Grant; Reproductive-system-disorders; Epidemiology; Genotoxic-effects; Developmental-disorders; Gastrointestinal-system-disorders
Contact
Environmental Health Sciences Johns Hopkins Sch of Hygiene 615 North Wolfe Street Baltimore, MD 21205
CODEN
AJMGDA
Publication Date
19930101
Document Type
Journal Article
Funding Amount
28995.00
Funding Type
Grant
Fiscal Year
1993
NTIS Accession No.
NTIS Price
Identifying No.
Grant-Number-R03-OH-01827
Issue of Publication
6
Priority Area
Fertility and Pregnancy Abnormalities; Reproductive-system-disorders
Source Name
American Journal of Medical Genetics
State
MD
Performing Organization
Johns Hopkins University, Baltimore, Maryland
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