Noonan-Like/Multiple Giant Cell Lesion Syndrome: Report of a Case and Review of the Literature

Noonan-like/multiple giant cell lesion syndrome is a recently defined syndrome manifesting the phenotypic features of Noonan syndrome and the occurrence of multiple giant cell lesions of bones, joints and/or soft tissues. A case of a 15-year-old boy with a Noonan-like/multiple giant cell lesion syndrome is presented and the literature is reviewed. A mutation in the PTPN11 gene, known to cause Noonan syndrome, was identified in the patient, but a mutation in the cherubism gene, SH3BP2, was absent. Therefore, the giant cell lesions of the jaw are probably an integral part of the clinical manifestations of Noonan syndrome.