PURPOSE Skeletal dysplasias comprise a heterogeneous group of inherited disorders of development, growth, and maintenance of the human skeleton. Because of their relative rarity and wide phenotypic variability, patients should be accurately identified, uniformly assessed, and managed by clinicians who are aware of their potential complications and possess the knowledge and resources to treat them effectively. This study presents expert guidelines developed to improve the diagnosis and management of patients with type II collagen skeletal disorders to optimize clinical outcomes. METHODS A panel of 11 multidisciplinary international experts in the field of skeletal dysplasia participated in a Delphi process, which comprised analysis of a thorough literature review with subsequent generation of 26 diagnosis and care recommendations, followed by two rounds of anonymous voting with an intervening face-to-face meeting. Those recommendations with more than 80% agreement were considered as consensual. RESULTS After the first voting round, consensus was reached to support 12 of 26 (46%) statements. After the panel discussion, the group reached consensus on 22 of 24 revised statements (92%). CONCLUSIONS Consensus-based, expert best practice guidelines developed as a standard of care to assist accurate diagnosis, minimize associated health risks, and improve clinical outcomes for patients with type II collagen skeletal dysplasias.

中文翻译：

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关于 II 型胶原蛋白疾病患者诊断和管理的最佳实践指南。

目的 骨骼发育不良包括一组异质的人类骨骼发育、生长和维持的遗传性疾病。由于其相对稀有和广泛的表型变异性，临床医生应准确识别、统一评估和管理患者，这些医生了解其潜在并发症并拥有有效治疗它们的知识和资源。本研究提出了旨在改善 II 型胶原骨骼疾病患者的诊断和管理以优化临床结果的专家指​​南。方法 一个由 11 名骨骼发育不良领域的多学科国际专家组成的小组参与了德尔菲过程，该过程包括对全面的文献回顾的分析以及随后产生的 26 项诊断和护理建议，随后进行了两轮匿名投票，并进行了面对面的会议。同意率超过 80% 的建议被认为是双方同意的。结果 在第一轮投票后，达成共识，支持 26 条声明中的 12 条（46%）。小组讨论后，小组就 24 条修订声明中的 22 条达成共识（92%）。结论 基于共识的专家最佳实践指南被开发为一种护理标准，以帮助准确诊断，最大限度地减少相关的健康风险，并改善 II 型胶原骨骼发育不良患者的临床结果。小组讨论后，小组就 24 条修订声明中的 22 条达成共识（92%）。结论 基于共识的专家最佳实践指南被开发为一种护理标准，以帮助准确诊断，最大限度地减少相关的健康风险，并改善 II 型胶原骨骼发育不良患者的临床结果。小组讨论后，小组就 24 条修订声明中的 22 条达成共识（92%）。结论 基于共识的专家最佳实践指南被开发为一种护理标准，以帮助准确诊断，最大限度地减少相关的健康风险，并改善 II 型胶原骨骼发育不良患者的临床结果。