home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 88      Small font sizeDefault font sizeIncrease font size Print this page Email this page
 CASE REPORT
Year : 2017  |  Volume : 12  |  Issue : 4  |  Page : 383-385

Two sisters with Angelman syndrome: A case series report


Department of Pediatrics, Konya Education and Research Hospital, Meram, Konya, Turkey

Correspondence Address:
Dr. «elebi Kocaoglu
Konya Education and Research Hospital, 42090 Meram, Konya
Turkey
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JPN.JPN_55_17

Rights and Permissions

Angelman syndrome (AS) is known as an intellectual disability related to speech impairment, ataxia and behavioral uniqueness, including a combination of frequent laughter and smiling, apparent happy demeanor, excitable personality and hypermotor behavior. In this report, we present a 5-year-old girl with AS associated with atypical clinical manifestations, including developmental dysplasia of the hip and simian line in the right hand, and her elder sister with AS. Even if any gene mutation cannot be demonstrated, it should be kept in mind that different mutations may exist in the cases that are the suggestive of clinical AS. Therefore, AS patients can be exposed to special education, and their quality of life can be elevated.






[FULL TEXT] [PDF]*


        
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed778    
    Printed11    
    Emailed0    
    PDF Downloaded38    
    Comments [Add]    

Recommend this journal