Journal of Oral Science Research ›› 2024, Vol. 40 ›› Issue (3): 272-274.DOI: 10.13701/j.cnki.kqyxyj.2024.03.016

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Osteopetrosis with CLCN7 Gene Mutation: A Case Report

CAO Yongqing, ZHA Chunhong*   

  1. Affiliated Stomatological Hospital of Nanchang University; Jiangxi Province Key Laboratory of Oral Biomedicine; Jiangxi Province Clinical Research Center for Oral Diseases, Nanchang 330000, China
  • Received:2023-11-02 Online:2024-03-28 Published:2024-03-25

Abstract: Osteopetrosis (OP), also known as chalk like bone disease or marble bone disease, is a rare and unexplained metabolic bone disease with genetic predisposition due to reduced osteoclast count or abnormal function. The clinical manifestations are complex and diverse, with imaging manifestations mainly characterized by widespread increase in bone density throughout the body. This article reports the data of a patient with osteopetrosis accompanied by mandibular osteomyelitis. Previous literature is reviewed to provide an overview of the pathogenesis, clinical classification, and treatment, providing reference for future clinical treatment of this disease.

Key words: osteopetrosis, mandibular osteomyelitis, CLCN7