Alagille syndrome

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.

Pulmonic stenosis

A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).


Total: 4

                       


(per page)
PMID (PMCID)
12530500
 MALE Infant
Successful combined orthotopic liver transplant and transcatheter management of atrial septal defect, patent ductus arteriosus, and peripheral pulmonic stenosis in a small infant with Alagille syndrome.
Harris M, Cao QL, Waight D, Hijazi ZM.
Pediatr Cardiol. 2002;23(6):650-4.
Successful combined orthotopic liver transplant and transcatheter management of atrial septal defect, patent ductus arteriosus, and peripheral pulmonic stenosis in a small infant with Alagille syndrome.
10808707
 FEMALE Infant
A case report: Alagille syndrome.
Ukarapol N, Wongsawasdi L, Sittiwangkul R.
J Med Assoc Thai. 2000;83(4):451-4.
Alagille syndrome consists of 5 major features comprising paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects and peripheral pulmonic stenosis.
3740100
 FEMALE Infant, Newborn
del(20p) with manifestations of arteriohepatic dysplasia.
Byrne JL, Harrod MJ, Friedman JM, Howard-Peebles PN.
Am J Med Genet. 1986;24(4):673-8.
Mild peripheral pulmonic stenosis, skeletal anomalies, and cholestasis with paucity of intrahepatic bile ducts were observed, and she was diagnosed as having arteriohepatic dysplasia.
6862162
 OTHER Infant, Newborn
Tubulointerstitial nephropathy associated with arteriohepatic dysplasia.
Hyams JS, Berman MM, Davis BH.
Gastroenterology. 1983;85(2):430-4.
An infant with a variant of arteriohepatic dysplasia (characteristic facies, valvular and peripheral pulmonic stenosis, hypercholesterolemia, intrahepatic cholestasis) and a severe tubulointerstitial nephropathy is described.