A case with 18p deletion and dystonia and review of the literature
- Author:
Hakan Tekeli
;
Mustafa Tansel Kendirli
;
Mehmet Güney Şenol
;
Serkan Demir
;
Halit Yaşar
;
Rıfat Erdem Toğrol
;
Mehmet Fatih Özdağ
;
Yusuf Tunca
- Publication Type:Case Reports
- MeSH:
Chromosome 18p deletion syndrome;
Dystonic Disorders
- From:Neurology Asia
2015;20(3):287-290
- CountryMalaysia
- Language:English
-
Abstract:
18p deletion syndrome is a rare disorder which is accompanied with mental retardation, facial
abnormalities and short stature. Dystonic findings are rarely seen and only 12 cases have been reported
in the literature until now. We report here a 26 year old female complaining of spasms on her trunk
and limb muscles. Genetic investigation revealed 18p deletion.
- Full text:P020151007468077300791.pdf
