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.

Inguinal hernia

Protrusion of the contents of the abdominal cavity through the inguinal canal.


Total: 1

                      


(per page)
PMID (PMCID)
2352262
MALE Infant
Branchial dysplasia, mental deficiency, club feet, and inguinal herniae: a report of two further cases associated with paucity of interlobular bile ducts.
Lambert JC, Saint-Paul MC, Bastiani F, Paquis V, Saunieres AM.
J Med Genet. 1990;27(5):330-2.
To the abnormalities already described (branchial dysplasia, mental deficiency, club feet, inguinal herniae) must be added a paucity of interlobular bile duts; the relationship between this new syndrome and the Alagille syndrome requires reconsideration.