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.

Hypotonia

Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.


合計: 2

                       


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PMID (PMCID)
24899541
 MALE Infant, Newborn
Dornase alpha inhalations as a treatment option for recurrent lower respiratory tract infections in a child with Sotos syndrome.
Eickhoff P, Fazekas T, Wank H, Kastner U.
Wien Klin Wochenschr. 2014;126(13-14):431-4.
Recurrent episodes of lower respiratory tract infections (LRTIs) are a rare complication of muscular hypotonia in patients with Sotos syndrome.
12900893
 FEMALE
A novel 5q35.3 subtelomeric deletion syndrome.
Rauch A, Beese M, Mayatepek E, Dorr HG, Wenzel D, Reis A, Trautmann U.
Am J Med Genet A. 2003;121A(1):1-8.
Subtracting the symptoms of Sotos syndrome from the published patients with larger 5q35.3 deletions allowed us to delineate a distinct phenotype of prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia and delay of reaching motor milestones, but speech development within normal limits, wide fontanels, failure to thrive with postnatal short stature, and multiple minor anomalies such as mildly bell-shaped chest, minor congenital heart disease, and a distinct facial gestalt, associated with the novel 3.5 Mb cryptic deletion.