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.

Hypoplastic left heart

Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.


合計: 1

                      


(表示件数)
PMID (PMCID)
17786115
MALE Infant
Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart.
Robert ML, Lopez T, Crolla J, Huang S, Owen C, Burvill-Holmes L, Stumper O, Turnpenny PD.
Clin Dysmorphol. 2007;16(4):241-6.
Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart.