Alagille syndrome

Journal of Medical Genetics

Volumn 34, Issue 2, 1997, Pages 152-157

  Krantz, Ian D ^a   Piccoli, David A ^b   Spinner, Nancy B ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Alagille syndrome

Indexed keywords

ALAGILLE SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHOLESTASIS; CHROMOSOME 20P; CLINICAL FEATURE; COGNITION; CONGENITAL HEART MALFORMATION; CYTOGENETICS; DIFFERENTIAL DIAGNOSIS; EYE MALFORMATION; FACE DYSMORPHIA; GENE DELETION; GENE MAPPING; GENETIC LINKAGE; HUMAN; INTRAHEPATIC BILE DUCT; LIVER DISEASE; MUTATION RATE; NEWBORN JAUNDICE; PRIORITY JOURNAL; PROGNOSIS; PULMONARY VALVE STENOSIS; SKELETON MALFORMATION;

EID: 0031048131     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.2.152     Document Type: Article

References (16)

1. Alagille D, Habib EC, Thomassin N. L'atresie des voies biliaires intrahepatiques avec voies biliaires extrahepatiques permeables chez l'enfant. A propos de 25 observations. Paris: Editions Médicales Flammarion, 1969:301-18.
2. Watson GH, Miller V. Arteriohepatic dysplasia, familial pulmonary arterial stenosis with neonatal liver disease. Arch Dis Child 1973;48:459-66.
3. Riely CA, Cotlier E, Jensen PS, Klatskin G. Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement. Ann Intern Med 1979;91:520-7.
4. Alagille D, Estrada A, Hadchouel M, et al. Syndromic paucity of interlobular bile ducts. J Pediatr 1987;110:195-200.
5. Danks DM, Campbell PE, Jack I, et al. Studies of the aetiology of neonatal hepatitis and biliary atresia. Arch Dis Child 1977;52:360-7.
6. Greenwood RD, Rosenthal A, Crocker AC, Nadas AS. Syndrome of intrahepatic biliary dysgenesis and cardiovascular malformations. Pediatrics 1976;58:243-7.
7. Henriksen NT, Langmark F, Sorland SJ, et al. Hereditary cholestasis combined with peripheral plumonary stenosis and other anomalies. Acta Paediatr Scand 1977;66:7-15.
8. Piccoli DA, Witzleben CL. Disorders of the intrahepatic bile ducts. In: Walker WA, et al, eds. Pediatric gastrointestinal disease. New York: Mosby-Year Book Inc, 1996:1362-84.
9. Tzakis AG, Reyes J, Tepetes K, et al. Liver transplantation for Alagille's syndrome. Liver Transplant 1993;128:337-9.
10. Deprettere A, Portman B, Mowat A. Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood. J Pediatr Gastroenterol Nutr 1987;6:865-71.
11. Novotny NM, Zetterman RK, Antonson DL, Vanderhoof JA. Variation in liver histology in Alagille's syndrome. Am J Gastroenterol 1981;75:449-50.
12. Silberbach M, Lashley D, Reller MD, et al. Arteriohepatic dysplasia and cardiovascular malformations. Am Heart J 1994;127:695-9.
13. Mueller RF, Pagon RA, Pepin MG, et al. Arteriohepatic dysplasia: phenotypic features and family studies. Clin Genet 1984;25:323-31.
14. Puklin JE, Riely CA, Simon RM, Cotlier E. Anterior segment and retinal pigmentary abnormalities in arteriohepatic dysplasia. Ophthalmology 1981;88:337-47.
15. Waring GO, Rodrigues MM, Laibson PR. Anterior chamber cleavage syndrome: a stepladder classification. Surv Ophthalmol 1975;20:3-27.
16. Wells KK, Pulido JS, Judisch GF, et al. Ophthalmic features of Alagille syndrome (arteriohepatic dysplasia). J Pediatr Ophthalmol Strabismus 1993;30:130-5.