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.

Redundant skin

Loose and sagging skin often associated with loss of skin elasticity.


合計: 1

                      


(表示件数)
PMID (PMCID)
9950366
MIXED_SAMPLE Child
Sotos syndrome and cutis laxa.
Robertson SP, Bankier A.
J Med Genet. 1999;36(1):51-6.
We report three patients with the anthropometric and dysmorphological appearance of classical Sotos syndrome in association with redundant skin folds, joint hypermobility, and, in two of the three, vesicoureteric reflux suggestive of a coexisting connective tissue disorder.