title: Alagille syndrome case report: implications for forensic pathology and anthropology.
abstract: 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. The article evidences the macroscopical and microscopical characteristics of the syndrome, focusing especially on the skeletal findings that emerged during autopsy. In the case report, distinction is made between a possible accidental or non-accidental nature of the injuries and the characteristics of the injury have been interpreted in the light of the existing data on Alagille syndrome. In conclusion, the death was documented as accidental since abnormalities in the skeletal system evidenced during autopsy have predisposed the death of the child albeit through a very mild head trauma. The case report evidences the importance of studying features of skull macro- and microstructure in patients with Alagille syndrome, which have been, until now, underreported in literature and which might contribute to fracture vulnerability in these patients. Although rare, Alagille syndrome is a condition that should be known to forensic medicine practitioners and whose features and peculiarities must be taken into consideration in pediatric autopsy and suspected child abuse cases.
authors.affiliation: Department of Forensic Medicine and Criminalistics, Rijeka University School of Medicine, Braće Branchetta 20, HR-51000, Rijeka, Croatia, anja.petaros@yahoo.com.
authors.forename: Anja
authors.initials: A
authors.lastname: Petaros
authors.forename: Damir
authors.initials: D
authors.lastname: Miletic
authors.forename: Sanja
authors.initials: S
authors.lastname: Stifter
authors.forename: Mario
authors.initials: M
authors.lastname: Slaus
authors.forename: Valter
authors.initials: V
authors.lastname: Stemberga
mesh_terms: D000058:Accidental Falls; D016738:Alagille Syndrome / Q000473:pathology*; D002649:Child Abuse / Q000175:diagnosis / Q000331:legislation & jurisprudence; D002675:Child, Preschool; D003299:Cooperative Behavior; D003937:Diagnosis, Differential; D000069581:Exposure to Violence / Q000331:legislation & jurisprudence*; D005260:Female; D018732:Forensic Anthropology; D049429:Forensic Pathology; D006407:Hematoma, Epidural, Cranial / Q000473:pathology*; D006801:Humans; D033183:Interdisciplinary Communication; D012887:Skull Fractures / Q000473:pathology*; D013701:Temporal Bone / Q000293:injuries* / Q000473:pathology*