title: Investigation of inflicted injury in a young girl reveals mild haemophilia A and Turner's syndrome.
abstract: A 2-year-old girl presented to casualty with a right knee effusion after apparently minor trauma. Inflicted injury was suspected and full forensic coagulation studies were performed which revealed a mild deficiency of factor VIII. Screening of the exons and intron/exon boundaries of F8 gene indicated that the child appeared to be homozygous for the missense mutation c.5123G>A (p.Arg1708His) in exon 14 of the F8 gene. This mutation has been reported to be associated with mild haemophilia A. The possibility of hemizygosity had been masked by the test kit employed but referral to the genetics service and subsequent array CGH resulted in a diagnosis of Turner syndrome.
authors.affiliation: Department of Haematology, Women's and Children's Hospital, North Adelaide, South Australia, Australia. vaughan.williams@health.sa.gov.au
authors.forename: V K
authors.initials: VK
authors.lastname: Williams
authors.forename: R
authors.initials: R
authors.lastname: Suppiah
authors.forename: B
authors.initials: B
authors.lastname: Coppin
authors.forename: C M
authors.initials: CM
authors.lastname: Nicholls
authors.forename: A
authors.initials: A
authors.lastname: Simsek
authors.forename: L K
authors.initials: LK
authors.lastname: McGregor
mesh_terms: D002675:Child, Preschool; D041321:Chromosomes, Human, X; D003937:Diagnosis, Differential; D005091:Exons; D005169:Factor VIII / Q000235:genetics; D005260:Female; D057898:Hemizygote; D006467:Hemophilia A / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007718:Knee Injuries / Q000175:diagnosis; D009154:Mutation; D014424:Turner Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics
chemical_list: D005169:Factor VIII