Open AccessTwo sisters with Angelman syndrome: A case series report
Author(s) -
Çelebi Kocaoğlu
Publication year - 2017
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_55_17
Subject(s) - angelman syndrome , medicine , girl , laughter , ataxia , sister , intellectual disability , pediatrics , genetics , psychiatry , developmental psychology , psychology , neuroscience , gene , sociology , anthropology , biology
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.