doi: 10.1111/j.1651-2227.1977.tb07801.x.
Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies
- PMID: 831382
- DOI: 10.1111/j.1651-2227.1977.tb07801.x
Item in Clipboard
Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies
Acta Paediatr Scand.
1977 Jan.
Abstract
A syndrome consisting of chronic intrahepatic cholestasis with retention of bile acids but with normalization of bile pigment excretion ahd blood lipids, peripheral pulmonary stenosis, vertebral anomalies and a characteristic facies is described in six patients, including a father and his daughter. An autosomal dominant mode of inheritance is suggested.
Similar articles
-
A father and son with cholestasis and peripheral pulmonic stenosis: a distinct form of intrahepatic cholestasis.J Pediatr. 1978 Mar;92(3):406-11. doi: 10.1016/s0022-3476(78)80428-4. J Pediatr. 1978. PMID: 632979
-
[Familial recurrent intrahepatic cholestasis since early infancy].Z Kinderheilkd. 1971;110(4):292-316. Z Kinderheilkd. 1971. PMID: 5567008 German. No abstract available.
-
Byler's disease: fatal intrahepatic cholestasis.J Pediatr. 1972 Sep;81(3):484-92. doi: 10.1016/s0022-3476(72)80174-4. J Pediatr. 1972. PMID: 5049817 No abstract available.
-
Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature.Am J Med Genet. 1992 Sep 15;44(2):129-35. doi: 10.1002/ajmg.1320440202. Am J Med Genet. 1992. PMID: 1456279 Review.
-
Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia.Am J Med Genet. 1993 Mar 15;45(6):739-42. doi: 10.1002/ajmg.1320450614. Am J Med Genet. 1993. PMID: 8456853 Review.
Cited by
-
Investigation of serum bile acids; seven patients with Alagille syndrome.Eur J Pediatr. 1985 Sep;144(3):236-9. doi: 10.1007/BF00451949. Eur J Pediatr. 1985. PMID: 4054162
-
Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome).Hum Genet. 1989 Oct;83(3):239-44. doi: 10.1007/BF00285164. Hum Genet. 1989. PMID: 2793167
-
Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.Gastroenterology. 2013 May;144(5):1107-1115.e3. doi: 10.1053/j.gastro.2013.01.022. Epub 2013 Jan 18. Gastroenterology. 2013. PMID: 23336978 Free PMC article.
-
The Alagille syndrome (arteriohepatic dysplasia).J Med Genet. 1987 Oct;24(10):621-6. doi: 10.1136/jmg.24.10.621. J Med Genet. 1987. PMID: 3119852 Free PMC article. Review. No abstract available.
-
Glomerular mesangiolipidosis in Alagille syndrome (arteriohepatic dysplasia).Pediatr Nephrol. 1987 Jul;1(3):455-64. doi: 10.1007/BF00849254. Pediatr Nephrol. 1987. PMID: 3153318