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- Title
A case with 18p deletion and dystonia and review of the literature.
- Authors
Hakan Tekeli; Kendirli, Mustafa Tansel; Şenol, Mehmet Güney; Demir, Serkan; Yaşar, Halit; Toğrol, Rıfat Erdem; Özdağ, Mehmet Fatih; Tunca, Yusuf
- 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.
- Subjects
INTELLECTUAL disabilities; FACIAL abnormalities; SHORT stature; SPASMS; MUSCLE diseases; PATIENTS
- Publication
Neurology Asia, 2015, Vol 20, Issue 3, p287
- ISSN
1823-6138
- Publication type
Case Study