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.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


Total: 2

                       


(per page)
PMID (PMCID)
28128410
 MALE
A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil.
Reis FG, Pinto IP, Minasi LB, Melo AV, Cunha DM, Ribeiro CL, da Silva CC, Silva DM, da Cruz AD.
Genet Mol Res. 2017;16(1):.
The proband had microduplication in the chromosomal region containing NSD1, which resulted in a Sotos syndrome reversed phenotype, and this duplication was associated with microcephaly, short stature, and developmental delay.
19844260
 MALE Child
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
Franco LM, de Ravel T, Graham BH, Frenkel SM, Van Driessche J, Stankiewicz P, Lupski JR, Vermeesch JR, Cheung SW.
Eur J Hum Genet. 2010;18(2):258-61.
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.