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.

Hypercalcemia

An abnormally increased calcium concentration in the blood.


合計: 2

                       


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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.
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.
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.
We propose that the heterozygous FGFR4 deletion, as observed in the Sotos syndrome patient, leads to a compromised FGF23 signaling during infancy accounting for transient hypercalcemia.