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.

Osteopenia

Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.

合計: 2

（表示件数）

PMID (PMCID)
28660405	FEMALE
	Xanthogranulomatous osteomyelitis of the humerus in a pediatric patient with Alagille syndrome: a case report and literature review.
	Cheema A, Arkader A, Pawel B. Skeletal Radiol. 2017;46(10):1447-1452.
	In the discussion section, we explore how osteopenia and immune dysregulation caused by Alagille syndrome can affect the development of XO.
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.