Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications.

摘要

Noonan syndrome (NS; MIM No. 163950) is autosomal dominant disorder characterized by short stature, cardiovascular defects, and dysmorphological features, including hypertelorism, a webbed neck, a pectus excavatum and cuvitus valgus. Mental retardation and hearing difficulty are often observed in affected individuals.