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Paper Information

Journal:   IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)   SPRING 2016 , Volume 10 , Number 2; Page(s) 86 To 89.
 
Paper: 

ANGELMAN SYNDROME: A CASE REPORT

 
 
Author(s):  ASHRAFZADEH FARAH, SADRNABAVI ARIANEH, AKHONDIAN JAVAD, BEIRAGHI TOOSI MEHRAN, MOHAMMADI MOHAMMADHASSAN, HASSANPOUR KAZEM*
 
* GHAEM MEDICAL CENTER, MASHHAD UNIVERSITY OF MEDICAL SCIENCES, MASHHAD, IRAN
 
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.

 
Keyword(s): ANGELMAN SYNDROME, CHILD, DEVELOPMENTAL DELAY, IRAN
 
 
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APA: Copy

ASHRAFZADEH, F., & SADRNABAVI, A., & AKHONDIAN, J., & BEIRAGHI TOOSI, M., & MOHAMMADI, M., & HASSANPOUR, K. (2016). ANGELMAN SYNDROME: A CASE REPORT. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), 10(2), 86-89. https://www.sid.ir/en/journal/ViewPaper.aspx?id=510360



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). 2016 [cited 2021July30];10(2):86-89. Available from: https://www.sid.ir/en/journal/ViewPaper.aspx?id=510360



IEEE: Copy

ASHRAFZADEH, F., SADRNABAVI, A., AKHONDIAN, J., BEIRAGHI TOOSI, M., MOHAMMADI, M., HASSANPOUR, K., 2016. ANGELMAN SYNDROME: A CASE REPORT. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), [online] 10(2), pp.86-89. Available: https://www.sid.ir/en/journal/ViewPaper.aspx?id=510360.



 
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