Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations.

摘要

Noonan-like/multiple giant cell lesion syndrome (NL/ MGCLS; MIM 163955) is a term describing a subgroup of Noonan syndrome (NS) patients with additional cystic GGLs of the jaws resembling cherubism (Wolvius et a/., 2006). NS is characterized by cardiac malformations, short stature, skeletal defects, mental retardation in some cases and characteristic facial dysmorphism. Patients with cherubism (MIM 118400) present with tuberous and symmetrical enlargement of the mandible/maxilla, tooth displacement and/or malformation, lower lid retraction and globe displacement (Lee eta/., 2005).