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.

Hypoparathyroidism

A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.


Total: 2

                       


(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.
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.
Hypoparathyroidism has never been described in Sotos syndrome.