Bufalino Andreia, Carrera Manoela, Carlos Roman, Coletta Ricardo D
Department of Oral Diagnosis, Dental School, State University of Campinas, Av. Limeira, 901, Piracicaba, São Paulo 13414-018, Brazil.
Head Neck Pathol. 2010 Jun;4(2):174-7. doi: 10.1007/s12105-010-0178-2. Epub 2010 Apr 11.
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.
努南样/多发性巨细胞病变综合征（NS/MGCLS）是一种罕见疾病，其表型与努南综合征（NS）有重叠。它曾被认为是一种特定的独立疾病实体，现在有人提出它是努南综合征谱系的一种变体。我们报告了一名具有努南综合征典型主要特征的患者，包括身材矮小、轻度上睑下垂、眼距增宽、睑裂向下倾斜、低位且向后成角的耳朵、短颈、漏斗胸、乳头间距宽和隐睾症，这些特征与下颌骨双侧中央巨细胞病变以及PTPN11基因第3外显子的种系突变（C218T，Thr73Ile）相关。相似的临床和遗传方面支持了NS/MGCLS是努南综合征变体且巨细胞病变是该疾病一个组成部分的观点。
