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.

Ventriculomegaly

An increase in size of the ventricular system of the brain.


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PMID (PMCID)
25510705
 FEMALE Adult
Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome.
Chen CP, Lin CJ, Chern SR, Liu YP, Kuo YL, Chen YN, Wu PS, Town DD, Chen LF, Yang CW, Wang W.
Taiwan J Obstet Gynecol. 2014;53(4):583-7.
Fetuses with Sotos syndrome may present macrocephaly, polyhydramnios, ventriculomegaly, and pyelectasis in the third trimester.