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.

Diabetes mellitus

A group of abnormalities characterized by hyperglycemia and glucose intolerance.


合計: 2

                       


（表示件数）
PMID (PMCID)
28018696
(5149642)
 OTHER
Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression.
Bresnahan JJ, Winthrop ZA, Salman R, Majeed S.
Case Rep Psychiatry. 2016;2016:1657691.
Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, spina bifida, type 1 diabetes mellitus, and cystic fibrosis.
8775219
 MALE
Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome?
Devriendt K, Dooms L, Proesmans W, de Zegher F, Desmet V, Eggermont E.
Eur J Pediatr. 1996;155(2):87-90.
Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome?