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.

Ventricular preexcitation

An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.


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PMID (PMCID)
18775522
MALE Infant, Newborn
A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome.
Le Gloan L, Pichon O, Isidor B, Boceno M, Rival JM, David A, Le Caignec C.
Eur J Med Genet. 2008;51(6):651-7.
Despite a relationship between WPW and JAG1 deletion cannot be excluded, the JAG1 deletion is unlikely responsible for the ventricular preexcitation since WPW has never been associated with Alagille syndrome.