PDF(Pubmed)
Abstract：
Noonan syndrome (NS) is a phenotypically variable inherited multi-system disorder. Maxillofacial findings can be diagnostic, especially in the evaluation of discrete facial dysmorphia. Diagnostic landmark findings of therapeutic relevance for the jaws such as central giant cell granuloma (CGCG) are rare in NS. However, recent molecular genetic studies indicate that these rare, benign lesions are neoplasms and more common in specific syndromes grouped under the umbrella term RASopathies. A specialist surgical diagnosis can be helpful in identifying the underlying disease. This report outlines diagnosis and treatment of a case of CGCG for which jaw diagnosis became the key to identifying a syndromic disease.
摘要：
努南综合征（NS）是一种表型可变的遗传性多系统疾病。颌面部的发现可以诊断，特别是在离散面部畸形的评估中。在NS中，很少有与颌骨治疗相关的诊断标志发现，例如中央巨细胞肉芽肿（CGCG）。然而,最近的分子遗传学研究表明，这些罕见的，良性病变是肿瘤，在归类为放射病的特定综合征中更为常见。专业的手术诊断有助于确定潜在的疾病。本报告概述了一例CGCG的诊断和治疗，其中颌骨诊断成为确定综合征的关键。
