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.

Hydronephrosis

Severe distention of the kidney with dilation of the renal pelvis and calices.


Total: 2

                      


(per page)
PMID (PMCID)
12378571
FEMALE Adult
Perinatal imaging findings of inherited Sotos syndrome.
Chen CP, Lin SP, Chang TY, Chiu NC, Shih SL, Lin CJ, Wang W, Hsu HC.
Prenat Diagn. 2002;22(10):887-92.
Fetuses at risk for Sotos syndrome may present abnormal sonographic findings of the brain and the skull in association with overgrowth, unilateral hydronephrosis and polyhydramnios in the third trimester.
3955872
MALE Infant
Cerebral gigantism with hydronephrosis: a case report.
Adam KA, Salih Al Frayh AR, Sharma A, Ali Taha S.
Clin Genet. 1986;29(2):178-80.
A case of cerebral gigantism with hydronephrosis in a 20-month-old boy is described.