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努南综合征中的巨细胞病变：病例报告及文献复习

Giant cell lesions in noonan syndrome: case report and review of the literature.

作者信息

Bufalino Andreia, Carrera Manoela, Carlos Roman, Coletta Ricardo D

机构信息

Department of Oral Diagnosis, Dental School, State University of Campinas, Av. Limeira, 901, Piracicaba, São Paulo 13414-018, Brazil.

出版信息

Head Neck Pathol. 2010 Jun;4(2):174-7. doi: 10.1007/s12105-010-0178-2. Epub 2010 Apr 11.

DOI:10.1007/s12105-010-0178-2
PMID:20383758
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2878618/
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.

摘要

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。

相似文献

[1]
Giant cell lesions in noonan syndrome: case report and review of the literature.

Head Neck Pathol. 2010-6

[2]
A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.

J Hum Genet. 2013-11-14

[3]
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Clin Genet. 2009-6

[4]
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BMC Med Genet. 2020-3-12

[5]
Case report: Noonan syndrome with multiple giant cell lesions and review of the literature.

Am J Med Genet A. 2012-7-27

[6]
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[7]
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Eur J Hum Genet. 2009-4

[8]
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Eur J Hum Genet. 2004-12

[9]
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Eur J Hum Genet. 2009-10

[10]
Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

Am J Med Genet A. 2011-5-5

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[4]
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[5]
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[6]
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[7]
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[8]
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[9]
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[10]
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本文引用的文献

[1]
SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.

Clin Genet. 2009-6

[2]
Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.

Horm Res. 2009

[3]
Primary hyperparathyroidism: a current perspective.

Arch Pathol Lab Med. 2008-8

[4]
Expanding the genetic spectrum of Noonan syndrome.

Horm Res. 2007

[5]
Novel oral findings in Schimmelpenning syndrome.

Am J Med Genet A. 2007-4-15

[6]
Chronic kidney disease-mineral-bone disorder: a new paradigm.

Adv Chronic Kidney Dis. 2007-1

[7]
Clinically aggressive central giant cell granulomas in two patients with neurofibromatosis 1.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006-12

[8]
Noonan-like/multiple giant cell lesion syndrome: report of a case and review of the literature.

J Oral Maxillofac Surg. 2006-8

[9]
Noonan syndrome and related disorders: genetics and pathogenesis.

Annu Rev Genomics Hum Genet. 2005

[10]
Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism.

Clin Genet. 2005-8

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