We show the value of genetic screening in 3 adults with limited phenotypes of three bone sclerosing genetic disease (GD): osteopetrosis (OPT), Camurati-Engelmann disease (CED) and pycnodysostosis. INTRODUCTION OPT, CED and pycnodysostosis are three rare bone diseases often diagnosed in childhood. However, some atypical phenotypes raise the problem of delayed diagnosis in adults. Genetic tests may then be useful to establish a formal diagnosis. METHODS We report 3 cases of adult patients with symptomatic or asymptomatic bone sclerosing lesions for whom the clinical, radiological and biological explorations were atypical and did not allow a formal diagnosis. These unusual descriptions led to the search for genetic mutations. RESULTS These 3 cases of limited phenotypes were associated with unknown or poorly described variants of 3 rare bone genetic diseases. CONCLUSIONS Genetic tests proved useful to establish the diagnosis and manage the condition of adults with rare bone sclerosing GD.

中文翻译：

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基因检测对遗传性骨骼疾病表型有限的成年人很有用

我们展示了对 3 名具有三种骨硬化性遗传病 (GD) 有限表型的成人进行基因筛查的价值：骨硬化症 (OPT)、卡穆拉蒂-恩格尔曼病 (CED) 和骨密度异常。引言 OPT、CED 和骨密度异常是三种常见于儿童时期诊断出的罕见骨病。然而，一些非典型表型引起了成人延迟诊断的问题。基因检测可能有助于建立正式的诊断。方法 我们报告了 3 例有症状或无症状的骨硬化病变的成年患者，这些患者的临床、放射学和生物学检查不典型且不允许正式诊断。这些不寻常的描述导致了对基因突变的研究。结果 这 3 例有限表型与 3 种罕见骨遗传疾病的未知或描述不佳的变异相关。结论 基因检测被证明有助于诊断和管理患有罕见骨硬化 GD 的成年人的病情。