Sotos syndrome

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

Dystonia

An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.


合計: 1

                      


(表示件数)
PMID (PMCID)
10416233
FEMALE
[Sotos syndrome associated with focal dystonia].
Bravo M, Chacon J, Bautista E, Perez-Camacho I, Trujillo A, Grande MA.
Rev Neurol. 1999;28(10):971-2.
To date, dystonia has not been described in association with Sotos syndrome.