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.

Infantile hypercalcemia



Total: 2

                       


(per page)
PMID (PMCID)
24670087
 MALE Infant, Newborn
Switch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions.
Mutsaers HA, Levtchenko EN, Martinerie L, Pertijs JC, Allegaert K, Devriendt K, Masereeuw R, Monnens LA, Lombes M.
J Clin Endocrinol Metab. 2014;99(7):E1361-7.
Here we describe a new case of Sotos syndrome with a 5q35 microdeletion, affecting the fibroblast growth factor receptor 4 (FGFR4) gene, presenting with infantile hypercalcemia.
21597970
 FEMALE Infant, Newborn
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.
Kenny J, Lees MM, Drury S, Barnicoat A, Van't Hoff W, Palmer R, Morrogh D, Waters JJ, Lench NJ, Bockenhauer D.
Pediatr Nephrol. 2011;26(8):1331-4.
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.