The Noonan syndrome/cherubism association.
Noonan syndrome is characterized by short stature, unusual facies, congenital heart disease, chest deformity, mild mental retardation, and cryptorchidism in males. It may be sporadic or inherited as an autosomal dominant trait and occurs between 1 in 1000 and 1 in 2500 live births. Cherubism is a giant cell lesion of the jaws thought to be transmitted as an autosomal dominant trait. It is usually recognized by age 7 years, follows a variable course, and is not known to be related to other genetic disorders. We herein report on four patients with Noonan syndrome, all of whom had cherubism. Two other probable cases are cited in the literature for a total of six known cases.
Dunlap
C
C
Department of Oral Pathology, University of Missouri, School of Dentistry, Kansas City.
Neville
B
B
Vickers
R A
RA
O'Neil
D
D
Barker
B
B
D002636:Cherubism / Q000150:complications* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008297:Male; D008336:Mandibular Diseases / Q000473:pathology; D008439:Maxillary Diseases / Q000473:pathology; D009634:Noonan Syndrome / Q000150:complications* / Q000473:pathology