Abstract

Osteopetrosis describes several types of rare sclerosing bone dysplasias of varying clinical and radiographic severity. The classic autosomal dominant subtype emerges most often in adolescence but can present from infancy through adulthood. The autosomal recessive osteopetrosis, or “malignant infantile osteopetrosis,” presents in infancy with a grimmer prognosis, though the autosomal dominant forms (often mislabeled as “benign”) actually can have life-threatening consequences as well. Often osteopetrosis is detected due to skeletal findings on radiographs performed to evaluate injury or as an incidental finding during evaluation for illness. Given the varied phenotypic severity and presentations at different ages, radiologists play an integral role in the care of these patients both in diagnosis and in clinical evaluation and monitoring. A deeper understanding of the underlying genetic basis of the disease can aid in the radiologist in diagnosis and in anticipation of unique complications. An overview of current clinical management is also discussed.

Graphical abstract

中文翻译：

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儿科患者骨石症：放射科医生需要了解什么

摘要

骨石症描述了几种罕见的硬化性骨发育不良，其临床和放射学严重程度各不相同。经典的常染色体显性亚型最常出现在青春期，但也可以从婴儿期一直出现到成年期。常染色体隐性遗传性骨石症，或“恶性婴儿石骨症”，在婴儿期出现，预后较差，尽管常染色体显性形式（通常被错误地标记为“良性”）实际上也可能产生危及生命的后果。通常，石骨症是由于评估损伤而进行的射线照片上的骨骼发现或作为疾病评估过程中的偶然发现而被检测到的。鉴于不同年龄的表型严重程度和表现各异，放射科医生在这些患者的诊断、临床评估和监测护理中发挥着不可或缺的作用。更深入地了解该疾病的潜在遗传基础可以帮助放射科医生进行诊断和预测独特的并发症。还讨论了当前临床管理的概述。

图形概要