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.

Bone fracture

A partial or complete breakage of the continuity of a bone.


合計: 2

                      


(表示件数)
PMID (PMCID)
25194709
FEMALE
Alagille syndrome case report: implications for forensic pathology and anthropology.
Petaros A, Miletic D, Stifter S, Slaus M, Stemberga V.
Int J Legal Med. 2015;129(3):543-9.
This case report offers a multidisciplinary interpretation of the violent death of a 4-year-old girl suffering from Alagille syndrome who died after a low-height fall that resulted in temporal bone fracture and a large epidural hematoma.
28501843
OTHER
[Secondary osteoporosisn in boys with Alagille syndrome. Case report].
Jakubowska-Pietkiewicz E, miechowicz E, Chlebna-Sokol D.
Wiad Lek. 2015;68(3 pt 2):406-409.
In this case report authors present clinical (long bone fractures) and biochemical manifestations and densitometric abnormalities ( decrease of bone mineral density) in 10 years old boy with Alagille syndrome.