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Titolo:
Extrahepatic biliary atresia with laterality sequence anomalies
Autore:
Stoll, C; Morali, A; Leheup, B; Lucron, H;
Indirizzi:
CHU Strasbourg, Serv Genet Med, Strasbourg, France CHU Strasbourg Strasbourg France rg, Serv Genet Med, Strasbourg, France Ctr Hosp Univ, Nancy, France Ctr Hosp Univ Nancy FranceCtr Hosp Univ, Nancy, France
Titolo Testata:
GENETIC COUNSELING
fascicolo: 2, volume: 12, anno: 2001,
pagine: 157 - 161
SICI:
1015-8146(2001)12:2<157:EBAWLS>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
SITUS INVERSUS; POLYSPLENIA SYNDROMES; CARDIAC DEFECTS; 2 SETS; ASPLENIA; SIBSHIP; TWINS;
Keywords:
congenital heart disease; extrahepatic biliary atresia; laterality sequence; situs inversus;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Stoll, C Hop Hautepierre, Gen Med Serv, Ave Moliere, F-67098 Strasbourg, France Hop Hautepierre Ave Moliere Strasbourg France F-67098 rg, France
Citazione:
C. Stoll et al., "Extrahepatic biliary atresia with laterality sequence anomalies", GEN COUNSEL, 12(2), 2001, pp. 157-161

Abstract

The patient was the first child of first cousin parents. He was born at term after an uneventful pregnancy with normal height, weight and head circumference. Jaundice appeared at 15 days of age. Ventricular septal defects and valvular pulmonary stenosis were diagnosed, An hepatic workup revealed extrahepatic biliary atresia and abdominal situs inversus. Hepatic biopsy showed cirrhosis with intrahepatic cholestasis. Genetic factors are suggested in extrahepatic biliary atresia. Analysis of segregation patterns suggestedthe existence of two major groups, one with various combinations of anomalies within the laterality sequence and the other with one or two anomalies mostly involving the cardiac, gastrointestinal, and urinary systems. This patient belongs to the first group.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/09/20 alle ore 09:47:41