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.

Congenital hepatic fibrosis

The presence of fibrosis of that part of the liver with congenital onset.


合計: 1

                       


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PMID (PMCID)
18348269
 FEMALE Child
Hardikar syndrome: long term outcome of a rare genetic disorder.
Nydegger A, Van Dyck M, Fisher RA, Jaeken J, Hardikar W.
Am J Med Genet A. 2008;146A(19):2468-72.
The syndrome is clearly distinct from other previously described syndromes such as Alagille syndrome, congenital hepatic fibrosis, Caroli disease, and Kabuki make-up syndrome.