title: Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?
abstract: We report on a family with typical clinical findings of Noonan syndrome associated with giant cell lesions in maxilla and mandible. We discuss the obvious clinical overlap between Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome, and we give further clinical and molecular support that these two entities could be allelic conditions.
authors.affiliation: Clinical Genetics Unit, Department of Pediatrics, University of São Paulo, São Paulo, Brazil. drbertola@attglobal.net
authors.forename: D R
authors.initials: DR
authors.lastname: Bertola
authors.forename: C A
authors.initials: CA
authors.lastname: Kim
authors.forename: A C
authors.initials: AC
authors.lastname: Pereira
authors.forename: G F
authors.initials: GF
authors.lastname: Mota
authors.forename: J E
authors.initials: JE
authors.lastname: Krieger
authors.forename: I C
authors.initials: IC
authors.lastname: Vieira
authors.forename: M
authors.initials: M
authors.lastname: Valente
authors.forename: M R
authors.initials: MR
authors.lastname: Loreto
authors.forename: R P
authors.initials: RP
authors.lastname: Magalhães
authors.forename: C H
authors.initials: CH
authors.lastname: Gonzalez
mesh_terms: D000293:Adolescent; D000328:Adult; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D004247:DNA / Q000235:genetics; D003937:Diagnosis, Differential; D005192:Family Health; D005260:Female; D006101:Granuloma, Giant Cell / Q000235:genetics / Q000473:pathology*; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009634:Noonan Syndrome / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D013577:Syndrome
chemical_list: D004247:DNA