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.

Pointed chin

A marked tapering of the lower face to the chin.


Total: 1

                       


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PMID (PMCID)
10079350
 MALE Infant
Extrahepatic biliary atresia associated with trisomy 18.
Ikeda S, Sera Y, Yoshida M, Ohshiro H, Ueno M, Izaki T, Akizuki M, Hamamoto R, Uchino S.
Pediatr Surg Int. 1999;15(2):137-8.
A 1-month-old boy was suspected to have Alagille syndrome with obstructive jaundice, a systolic heart murmur, growth retardation, and a small, pointed chin.