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.

Rhabdomyolysis

Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.


Total: 1

                      


(per page)
PMID (PMCID)
25887879
MALE
Hypoparathyroidism in a 3-year-old Korean boy with Sotos syndrome and a novel mutation in NSD1.
Wejaphikul K, Cho SY, Huh R, Kwun Y, Lee J, Ki CS, Jin DK.
Ann Clin Lab Sci. 2015;45(2):215-8.
We describe rhabdomyolysis and hypocalcemia due to hypoparathyroidism in a 3-year-old Korean boy with Sotos syndrome.