Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1987 Oct;24(10):621–626. doi: 10.1136/jmg.24.10.621

The Alagille syndrome (arteriohepatic dysplasia).

R F Mueller 1
PMCID: PMC1050291  PMID: 3119852

Full text

PDF

Images in this article

622Image
on p.622
622Image
on p.622
622Image
on p.622
623Image
on p.623
623Image
on p.623

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Adams P. C. Hepatocellular carcinoma associated with arteriohepatic dysplasia. Dig Dis Sci. 1986 Apr;31(4):438–442. doi: 10.1007/BF01311683. [DOI] [PubMed] [Google Scholar]
  2. Alagille D., Odièvre M., Gautier M., Dommergues J. P. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr. 1975 Jan;86(1):63–71. doi: 10.1016/s0022-3476(75)80706-2. [DOI] [PubMed] [Google Scholar]
  3. Berman M. D., Ishak K. G., Schaefer E. J., Barnes S., Jones E. A. Syndromatic hepatic ductular hypoplasia (arteriohepatic dysplasia): a clinical and hepatic histologic study of three patients. Dig Dis Sci. 1981 Jun;26(6):485–497. doi: 10.1007/BF01308096. [DOI] [PubMed] [Google Scholar]
  4. Bernard O., Bokobza Y. Posterior embryotoxon in cholestasis of infancy. Ann Intern Med. 1981 Mar;94(3):416–417. doi: 10.7326/0003-4819-94-3-416_3. [DOI] [PubMed] [Google Scholar]
  5. Branski D., Lebenthal E., Hatch T. F., Baliah T., Rosenfeld G. Intrahepatic cholestasis for 15 years without cirrhosis. J Clin Gastroenterol. 1980 Sep;2(3):251–257. doi: 10.1097/00004836-198009000-00009. [DOI] [PubMed] [Google Scholar]
  6. Byrne J. L., Harrod M. J., Friedman J. M., Howard-Peebles P. N. del(20p) with manifestations of arteriohepatic dysplasia. Am J Med Genet. 1986 Aug;24(4):673–678. doi: 10.1002/ajmg.1320240411. [DOI] [PubMed] [Google Scholar]
  7. Collins D. M., Shannon F. T., Campbell C. B. Bile acid metabolism in mild arteriohepatic dysplasia. Aust N Z J Med. 1981 Feb;11(1):48–51. doi: 10.1111/j.1445-5994.1981.tb03735.x. [DOI] [PubMed] [Google Scholar]
  8. Dahms B. B., Petrelli M., Wyllie R., Henoch M. S., Halpin T. C., Morrison S., Park M. C., Tavill A. S. Arteriohepatic dysplasia in infancy and childhood: a longitudinal study of six patients. Hepatology. 1982 May-Jun;2(3):350–358. doi: 10.1002/hep.1840020311. [DOI] [PubMed] [Google Scholar]
  9. Dupont J., Amedee-Manesme O., Alagille D., Chambaz J., Pepin D. Eicosanoid synthesis in Alagille syndrome. N Engl J Med. 1986 Mar 13;314(11):718–718. doi: 10.1056/NEJM198603133141119. [DOI] [PubMed] [Google Scholar]
  10. Flick A. L. Arteriohepatic dysplasia: a 16-year follow-up during treatment with cholestyramine. West J Med. 1982 Jan;136(1):62–65. [PMC free article] [PubMed] [Google Scholar]
  11. Gorelick F. S., Dobbins J. W., Burrell M., Riely C. A. Biliary tract abnormalities in patients with arteriohepatic dysplasia. Dig Dis Sci. 1982 Sep;27(9):815–820. doi: 10.1007/BF01391375. [DOI] [PubMed] [Google Scholar]
  12. Greenwood R. D., Rosenthal A., Crocker A. C., Nadas A. S. Syndrome of intrahepatic biliary dysgenesis and cardiovascular malformations. Pediatrics. 1976 Aug;58(2):243–247. [PubMed] [Google Scholar]
  13. Henriksen N. T., Langmark F., Sorland S. J., Fausa O., Landaas S., Aagenaes O. Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies. Acta Paediatr Scand. 1977 Jan;66(1):7–15. doi: 10.1111/j.1651-2227.1977.tb07801.x. [DOI] [PubMed] [Google Scholar]
  14. Hyams J. S., Berman M. M., Davis B. H. Tubulointerstitial nephropathy associated with arteriohepatic dysplasia. Gastroenterology. 1983 Aug;85(2):430–434. [PubMed] [Google Scholar]
  15. Kahn E., Daum F. Arteriohepatic dysplasia (Alagille's syndrome): a common cause of conjugated hyperbilirubinemia. Ann Clin Lab Sci. 1984 Nov-Dec;14(6):480–486. [PubMed] [Google Scholar]
  16. Kocoshis S. A., Cottrill C. M., O'Connor W. N., Haugh R., Johnson G. L., Noonan J. A. Congenital heart disease, butterfly vertebrae, and extrahepatic biliary atresia: a variant of arteriohepatic dysplasia? J Pediatr. 1981 Sep;99(3):436–439. doi: 10.1016/s0022-3476(81)80341-1. [DOI] [PubMed] [Google Scholar]
  17. LaBrecque D. R., Mitros F. A., Nathan R. J., Romanchuk K. G., Judisch G. F., El-Khoury G. H. Four generations of arteriohepatic dysplasia. Hepatology. 1982 Jul-Aug;2(4):467–474. doi: 10.1002/hep.1840020413. [DOI] [PubMed] [Google Scholar]
  18. Levin S. E., Zarvos P., Milner S., Schmaman A. Arteriohepatic dysplasia: association of liver disease with pulmonary arterial stenosis as well as facial and skeletal abnormalities. Pediatrics. 1980 Dec;66(6):876–883. [PubMed] [Google Scholar]
  19. Markowitz J., Daum F., Kahn E. I., Schneider K. M., So H. B., Altman R. P., Aiges H. W., Alperstein G., Silverberg M. Arteriohepatic dysplasia. I. Pitfalls in diagnosis and management. Hepatology. 1983 Jan-Feb;3(1):74–76. doi: 10.1002/hep.1840030112. [DOI] [PubMed] [Google Scholar]
  20. Mueller R. F., Pagon R. A., Pepin M. G., Haas J. E., Kawabori I., Stevenson J. G., Stephan M. J., Blumhagen J. D., Christie D. L. Arteriohepatic dysplasia: phenotypic features and family studies. Clin Genet. 1984 Apr;25(4):323–331. doi: 10.1111/j.1399-0004.1984.tb01998.x. [DOI] [PubMed] [Google Scholar]
  21. Obinata K., Nakatsu N., Watanabe T., Niijima S., Arisaka O., Sasaki H., Nittono H., Yabuta K., Miyano T. Investigation of serum bile acids; seven patients with Alagille syndrome. Eur J Pediatr. 1985 Sep;144(3):236–239. doi: 10.1007/BF00451949. [DOI] [PubMed] [Google Scholar]
  22. Ong E., Williams S. M., Anderson J. C., Kaplan P. A. MR imaging of a hepatoma associated with Alagille syndrome. J Comput Assist Tomogr. 1986 Nov-Dec;10(6):1047–1049. doi: 10.1097/00004728-198611000-00032. [DOI] [PubMed] [Google Scholar]
  23. Puklin J. E., Riely C. A., Simon R. M., Cotlier E. Anterior segment and retinal pigmentary abnormalities in arteriohepatic dysplasia. Ophthalmology. 1981 Apr;88(4):337–347. doi: 10.1016/s0161-6420(81)35026-x. [DOI] [PubMed] [Google Scholar]
  24. Riely C. A., Cotlier E., Jensen P. S., Klatskin G. Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement. Ann Intern Med. 1979 Oct;91(4):520–527. doi: 10.7326/0003-4819-91-4-520. [DOI] [PubMed] [Google Scholar]
  25. Riely C. A., LaBrecque D. R., Ghent C., Horwich A., Klatskin G. A father and son with cholestasis and peripheral pulmonic stenosis: a distinct form of intrahepatic cholestasis. J Pediatr. 1978 Mar;92(3):406–411. doi: 10.1016/s0022-3476(78)80428-4. [DOI] [PubMed] [Google Scholar]
  26. Romanchuk K. G., Judisch G. F., LaBrecque D. R. Ocular findings in arteriohepatic dysplasia (Alagille's syndrome). Can J Ophthalmol. 1981 Apr;16(2):94–99. [PubMed] [Google Scholar]
  27. Romero R., Reece E. A., Riely C., Hobbins J. C. Arteriohepatic dysplasia in pregnancy. Am J Obstet Gynecol. 1983 Sep 1;147(1):108–109. doi: 10.1016/0002-9378(83)90096-0. [DOI] [PubMed] [Google Scholar]
  28. Rosenfield N. S., Kelley M. J., Jensen P. S., Cotlier E., Rosenfield A. T., Riely C. A. Arteriohepatic dysplasia: radiologic features of a new syndrome. AJR Am J Roentgenol. 1980 Dec;135(6):1217–1223. doi: 10.2214/ajr.135.6.1217. [DOI] [PubMed] [Google Scholar]
  29. Shulman S. A., Hyams J. S., Gunta R., Greenstein R. M., Cassidy S. B. Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members. Am J Med Genet. 1984 Oct;19(2):325–332. doi: 10.1002/ajmg.1320190215. [DOI] [PubMed] [Google Scholar]
  30. Singcharoen T., Partridge J., Jeans W. D., Baddeley H. Arteriohepatic dysplasia. Br J Radiol. 1986 May;59(701):509–511. doi: 10.1259/0007-1285-59-701-509. [DOI] [PubMed] [Google Scholar]
  31. Sokol R. J., Heubi J. E., Balistreri W. F. Intrahepatic "cholestasis facies": is it specific for Alagille syndrome? J Pediatr. 1983 Aug;103(2):205–208. doi: 10.1016/s0022-3476(83)80345-x. [DOI] [PubMed] [Google Scholar]
  32. Valencia-Mayoral P., Weber J., Cutz E., Edwards V. D., Phillips M. J. Possible defect in the bile secretory apparatus in arteriohepatic dysplasia (Alagille's syndrome): a review with observations on the ultrastructure of liver. Hepatology. 1984 Jul-Aug;4(4):691–698. doi: 10.1002/hep.1840040422. [DOI] [PubMed] [Google Scholar]
  33. Watson G. H., Miller V. Arteriohepatic dysplasia: familial pulmonary arterial stenosis with neonatal liver disease. Arch Dis Child. 1973 Jun;48(6):459–466. doi: 10.1136/adc.48.6.459. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES