Recurrent fractures as a new skeletal problem in the course of Angelman syndrome

• We present new skeletal symptoms in the course of Angelman syndrome.
• It is the first report on recurrent low-trauma fractures in Angelman syndrome.
• We pointed that patient with AS can suffer from fractures even when bone mineral density is normal.

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.