Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?
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.
Bertola
D R
DR
Clinical Genetics Unit, Department of Pediatrics, University of São Paulo, São Paulo, Brazil. drbertola@attglobal.net
Kim
C A
CA
Pereira
A C
AC
Mota
G F
GF
Krieger
J E
JE
Vieira
I C
IC
Valente
M
M
Loreto
M R
MR
Magalhães
R P
RP
Gonzalez
C H
CH
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
D004247:DNA