| CASE REPORT |
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| Year : 2017 | Volume
: 12
| Issue : 4 | Page : 383-385 |
Two sisters with Angelman syndrome: A case series report
Çelebi Kocaoglu
Department of Pediatrics, Konya Education and Research Hospital, Meram, Konya, Turkey
Correspondence Address:
Dr. Çelebi Kocaoglu
Konya Education and Research Hospital, 42090 Meram, Konya
Turkey
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/JPN.JPN_55_17
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.
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