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.

Hypogonadism

A decreased functionality of the gonad.


合計: 1

                       


（表示件数）
PMID (PMCID)
15731932
 FEMALE
A case of Takayasu disease with findings of incomplete Alagille syndrome.
Kavukcu S, Demir K, Soylu A, Anal O, Saatci O, Goktay Y.
Rheumatol Int. 2005;25(7):555-7.
A 16-year-old girl being followed up for Takayasu arteritis for the last 3 years was also found to have Alagille syndrome upon findings of atypical facies, posterior embryotoxon, high-pitched voice, osteopenia and hypogonadism.