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.

Small for gestational age

Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.


Total: 1

                      


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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.
Alagille syndrome may not be the only syndrome determining paucity of interlobular bile ducts in neonates presenting with cholestasis and renal impairment, especially in small for gestational age newborns.