Giant cell lesions in noonan syndrome: case report and review of the literature.
Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a rare condition with phenotypic overlap with Noonan syndrome (NS). Once thought to be a specific and separate entity, it is now suggested to be a variant of the NS spectrum. We report a patient with classical cardinal features of NS, including short stature, mild ptosis, hypertelorism, down-slating palpebral fissures, low-set and posteriorly angulated ears, short neck, pectus excavatum, widely spaced nipples and cryptochidism, which were associated with bilateral central giant cell lesions in the mandible and germ-line mutation (C218T, Thr73Ile) in the exon 3 of the PTPN11 gene. The similar clinical and genetic aspects support the observation that NS/MGCLS is a variant of NS and giant cell lesions are an integrant part of this disorder.
Bufalino
Andreia
A
Department of Oral Diagnosis, Dental School, State University of Campinas, Av. Limeira, 901, Piracicaba, São Paulo 13414-018, Brazil.
Carrera
Manoela
M
Carlos
Roman
R
Coletta
Ricardo D
RD
D002648:Child; D018095:Germ-Line Mutation; D015726:Giant Cells / Q000473:pathology*; D006801:Humans; D008297:Male; D008334:Mandible / Q000473:pathology*; D009634:Noonan Syndrome / Q000235:genetics / Q000473:pathology*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics
C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11
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