title: Recurrent fractures as a new skeletal problem in the course of Angelman syndrome.
abstract: Angelman syndrome is a genetically inherited syndrome with severe retardation of psychomotor development and speech disturbances, usually accompanied by epilepsy, typical dysmorphic features, and some skeletal symptoms. The aim of the current report is to present new skeletal symptoms which may occur in the course of AS, based on a case report of an 8-year-old girl with confirmed 15q11;12 microdeletion and recurrent low-trauma bone fractures. According to our knowledge it is the first report of such skeletal symptoms in patient with a diagnosis of AS.
authors.affiliation: Department of Paediatric Propedeutics and Metabolic Bone Diseases, Medical University of Lodz, Poland. agnieszka.rusinska@wp.pl
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Rusińska
authors.forename: Agnieszka Balbina
authors.initials: AB
authors.lastname: Dzwonek
authors.forename: Danuta
authors.initials: D
authors.lastname: Chlebna-Sokół
mesh_terms: D017204:Angelman Syndrome / Q000150:complications* / Q000503:physiopathology; D002648:Child; D005260:Female; D050723:Fractures, Bone / Q000209:etiology*; D006801:Humans