Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.
Department of Pediatrics and Adolescent Medicine, Division of Neonatology, Pediatric Intensive Care Medicine and Neuropaediatrics, Medical University of Vienna, Vienna, Austria.
Wien Med Wochenschr. 2021 Apr;171(5-6):94-101. doi: 10.1007/s10354-021-00820-2. Epub 2021 Mar 10.
Skeletal disorders are inherited disorders with significant skeletal involvement and most of them are rare or extremely rare. Based on the clinical, radiological and genetic phenotype, the group of skeletal disorder comprises more than 450 different and highly heterogeneous disorders. In skeletal disorders rapid and precise diagnoses are urgently needed for patient care and are based on the combination of clinical, radiological and genetic analysis. Novel genetic techniques have revolutionized diagnostics and have a huge impact on counseling of patients and families. Disease-specific long-term management in a multidisciplinary healthcare team in highly specialized centers is recommended to optimize care for these patients. Here we describe a multidisciplinary postnatal approach for the diagnosis and management of patients and families with rare skeletal disorders at the Vienna Bone and Growth Center. We discuss the value of a multidisciplinary diagnostic and management approach in the postnatal setting and provide a diagnostic flowchart for rare skeletal disorders.
骨骼疾病是具有显著骨骼受累的遗传性疾病，其中大多数为罕见或极罕见疾病。根据临床、放射学和遗传表型，骨骼疾病组包含超过 450 种不同且高度异质的疾病。在骨骼疾病中，迫切需要基于临床、放射学和遗传分析的快速和准确诊断，以进行患者护理。新型基因技术彻底改变了诊断，并对患者和家庭的咨询产生了巨大影响。建议在高度专业化的中心的多学科医疗团队中对这些患者进行疾病特异性的长期管理，以优化其护理。在这里，我们描述了维也纳骨骼和生长中心在新生儿期对罕见骨骼疾病患者及其家庭进行诊断和管理的多学科方法。我们讨论了在新生儿期采用多学科诊断和管理方法的价值，并为罕见骨骼疾病提供了诊断流程图。
