Abstract
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.
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Bufalino, A., Carrera, M., Carlos, R. et al. Giant Cell Lesions in Noonan Syndrome: Case Report and Review of The Literature. Head and Neck Pathol 4, 174–177 (2010). https://doi.org/10.1007/s12105-010-0178-2
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DOI: https://doi.org/10.1007/s12105-010-0178-2