title: Angelman Syndrome: A Case Report.
abstract: Objective Angelman syndrome (AS) is a neurodevelopmental disorder presented by jerky movement, speech delay and cognitive disability epilepsy as well as dysmorphic features. It occurs due to an expression deletion in 15q11-q13 chromosome. In this article, we present an eight yr boy referred to Pediatrics Neurologic Clinic Mashhad, Iran for speech delay. He had abnormal behavior ataxia unusual laughing facial expression intellectual disability and mandibular prognathism. Metabolic screening tests and brain MRI were normal. Genetic analysis was pathognomonic for AS.
authors.affiliation: Department of Pediatric Neurology, Ghaem Medical Center, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Farah
authors.initials: F
authors.lastname: Ashrafzadeh
authors.affiliation: Dept. of Human Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Arianeh
authors.initials: A
authors.lastname: Sadrnabavi
authors.affiliation: Department of Pediatric Neurology, Ghaem Medical Center, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Javad
authors.initials: J
authors.lastname: Akhondian
authors.affiliation: Department of Pediatric Neurology, Ghaem Medical Center, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Mehran
authors.initials: M
authors.lastname: Beiraghi Toosi
authors.affiliation: Department of Pediatric, School of Medicine, Sabzevar University of Medical Sciences, Sabzevar, Iran.
authors.forename: Mohammadhassan
authors.initials: M
authors.lastname: Mohammadi
authors.affiliation: Department of Pediatric, School of Medicine, Sabzevar University of Medical Sciences, Sabzevar, Iran.
authors.forename: Kazem
authors.initials: K
authors.lastname: Hassanpour
keywords: Angelman syndrome; Child; Developmental delay; Iran