CLINICAL APPROACH TO SKELETAL DYSPLASIAS PATIENTS INTENDED FOR PEDIATRICIANS
DOI:
https://doi.org/10.46793/PP260209003MKeywords:
skeletal dysplasias/osteochondrodysplasias, guidelines, pediatricianAbstract
Introduction: Skeletal dysplasias comprise a heterogeneous group of disorders associated with abnormalities of the skeletal system. Most skeletal dysplasias are genetically determined. A comprehensive classification of skeletal dysplasias is subject to periodic revision. The phenotype of skeletal dysplasias is highly variable, depending on the involved genes and the mechanisms underlying their dysfunction. Establishing a diagnosis is often challenging because many skeletal dysplasias may have similar or overlapping phenotypes.
The objective of this study is to define practical guidelines for clinical work with children affected by skeletal dysplasia. We want to familiarize pediatricians with the physiology of skeletal development and the classification of skeletal dysplasias, followed by a practical approach to the diagnosis, treatment, and follow-up of children with skeletal dysplasias.
Methods: This is a review, based on data obtained from a literature search and the results of our retrospective cohort study that included 168 patients with suspected skeletal dysplasia.
Results: Establishing a diagnosis of skeletal dysplasia requires a detailed clinical evaluation, often radiological, and sometimes laboratory assessment. Genetic testing based on next generation sequencing, i.e., genotyping, represents a confirmatory tool for establishing a precise diagnosis in many cases. Many skeletal dysplasias require personalized treatment through a multidisciplinary approach and assessment of associated complications. The role of pediatricians at all levels of health care is crucial, from the early identification of suspected skeletal dysplasia, through referral for appropriate diagnostic evaluation, to the follow-up of these children with attention to their specific needs. The ultimate goal is to ensure the best possible quality of life for affected individuals.
Conclusion: Practical guidelines intended for pediatricians who encounter children with skeletal dysplasias in their clinical practice can significantly facilitate their work by enabling an individualized approach to these patients.
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