Rajathi Maria, Austin Ravi David, Mathew Philips, Bharathi C Saravana, Srivastava Kumar Chandan
Department of Oral Medicine and Radiology, Rajah Muthiah Dental College and Hospital, Chidambaram, Tamil Nadu, India.
Indian J Dent Res. 2010 Oct-Dec;21(4):611-4. doi: 10.4103/0970-9290.74234.
Osteopetrosis is a descriptive term that refers to a group of rare, heritable disorders of the skeleton. Osteopetrotic conditions vary greatly in their presentation and severity, from just as an incidental finding on radiographs to causing life-threatening complications such as bone marrow suppression. It is caused by failure of osteoclast development and function. Osteopetrosis can be inherited as autosomal-recessive, autosomal-dominant or as X-linked traits, with the most severe forms being the autosomal-recessive ones. The severity of the disease is mild to moderate in the autosomal-dominant forms, with normal life expectancy. Diagnosis is largely based on clinical and radiographic evaluation. The present paper reports a case of autosomal-dominant osteopetrosis complicated by osteomyelitis with a short review of the condition.
骨质石化症是一个描述性术语，指的是一组罕见的、遗传性骨骼疾病。骨质石化症的表现和严重程度差异很大，从仅在X线片上偶然发现到引发危及生命的并发症，如骨髓抑制。它是由破骨细胞发育和功能障碍引起的。骨质石化症可作为常染色体隐性、常染色体显性或X连锁性状遗传，最严重的形式是常染色体隐性遗传。常染色体显性形式的疾病严重程度为轻度至中度，预期寿命正常。诊断主要基于临床和影像学评估。本文报告了一例常染色体显性骨质石化症合并骨髓炎的病例，并对该病症进行了简要综述。
