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.

Nephrocalcinosis

Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.


Total: 2

                       


(per page)
PMID (PMCID)
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.
Here we report two unrelated cases of Sotos syndrome associated with nephrocalcinosis.
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.