Noonan syndrome with giant cell lesions.
Noonan syndrome is characterised by short stature, unusual facies, congenital heart disease, chest deformity and mild mental retardation. It may be sporadic or inherited as an autosomal dominant trait and occurs between one in 1000-2500. Cherubism is a giant cell lesion of the jaws thought to be transmitted as an autosomal dominant trait. It is usually recognised by age two to four years, follows a variable course, and is not known to be related to other genetic disorders. The purpose of this article is to report a case of multiple giant cell lesions of the mandible that occurred in a patient with phenotypic features of Noonan syndrome. The emerging relationship between these cherubism-like findings and Noonan syndrome will be discussed.
Lee
S M G
SM
Royal Liverpool Children's Hospital, Liverpool, UK. sharonlee@clwydway.freeserve.co.uk
Cooper
J C
JC
D002636:Cherubism / Q000175:diagnosis; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D018212:Giant Cell Tumor of Bone / Q000473:pathology*; D006801:Humans; D008339:Mandibular Neoplasms / Q000473:pathology*; D009634:Noonan Syndrome / Q000473:pathology*