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.

Pulmonary artery stenosis

An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


合計: 5

                       


（表示件数）
PMID (PMCID)
30791938
 MALE Infant
Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1beta deficiency: a case report and literature review.
Pinon M, Carboni M, Colavito D, Cisaro F, Peruzzi L, Pizzol A, Calosso G, David E, Calvo PL.
Ital J Pediatr. 2019;45(1):27.
Screening for cholestatic diseases, including Alagille syndrome, was negative except for a minor pulmonary artery stenosis at echocardiography and a doubt of a thoracic butterfly hemivertebra.
30160645
 MALE Infant
Successful living donor liver transplantation after stent implantation in a patient with Alagille syndrome and severe bilateral pulmonary artery stenosis.
Akagi K, Tanaka T, Baba S.
Cardiol Young. 2018;28(12):1465-1467.
Successful living donor liver transplantation after stent implantation in a patient with Alagille syndrome and severe bilateral pulmonary artery stenosis.
16499598
 MALE Infant
Severe peripheral pulmonary artery stenosis is not a contraindication to liver transplantation in Alagille syndrome.
Ozcay F, Varan B, Tokel K, Cetin I, Dalgic A, Haberal M.
Pediatr Transplant. 2006;10(1):108-11.
The aim of this report is to point out that the severe pulmonary artery stenosis may be a risk factor but not a contraindication to liver transplantation in patients with Alagille syndrome.
3340432
 MIXED_SAMPLE Infant
Hepatobiliary scintigraphy in arteriohepatic dysplasia (Alagille's syndrome). A report of two cases.
Summerville DA, Marks M, Treves ST.
Pediatr Radiol. 1988;18(1):32-4.
Arteriohepatic dysplasia (Alagille's syndrome) is an uncommon entity characterized by typical facial features, pulmonary artery stenosis, and a liver disorder which presents during the neonatal period as progressive jaundice.
3095769
 MALE Child
[Dwarfism in the Alagille syndrome caused by somatomedin C deficiency?].
Blumel P, Sacher M, Paky F, Stogmann W.
Padiatr Padol. 1986;21(3):257-64.
Alagille syndrome (= arterio-hepatic dysplasia) is a rare congenital syndrome consisting of cholestasis with paucity of intrahepatic bile ducts, pulmonary artery stenosis, skeletal anomalies and typical facies.