مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

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Information Journal Paper

Title

ANGELMAN SYNDROME: A CASE REPORT

Pages

  86-89

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.

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    • Cite

    APA: Copy

    ASHRAFZADEH, FARAH, SADRNABAVI, ARIANEH, AKHONDIAN, JAVAD, BEIRAGHI TOOSI, MEHRAN, MOHAMMADI, MOHAMMADHASSAN, & HASSANPOUR, KAZEM. (2016). ANGELMAN SYNDROME: A CASE REPORT. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), 10(2), 86-89. SID. https://sid.ir/paper/303491/en

    Vancouver: Copy

    ASHRAFZADEH FARAH, SADRNABAVI ARIANEH, AKHONDIAN JAVAD, BEIRAGHI TOOSI MEHRAN, MOHAMMADI MOHAMMADHASSAN, HASSANPOUR KAZEM. ANGELMAN SYNDROME: A CASE REPORT. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)[Internet]. 2016;10(2):86-89. Available from: https://sid.ir/paper/303491/en

    IEEE: Copy

    FARAH ASHRAFZADEH, ARIANEH SADRNABAVI, JAVAD AKHONDIAN, MEHRAN BEIRAGHI TOOSI, MOHAMMADHASSAN MOHAMMADI, and KAZEM HASSANPOUR, “ANGELMAN SYNDROME: A CASE REPORT,” IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), vol. 10, no. 2, pp. 86–89, 2016, [Online]. Available: https://sid.ir/paper/303491/en

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