Life span care for patients with skeletal dysplasia: A roadmap

Eur J Med Genet. 2023 Sep 25;66(11):104851. doi: 10.1016/j.ejmg.2023.104851. Online ahead of print.ABSTRACTPatients with skeletal dysplasias usually experience health related problems in different parts and systems of the body. Therefore, they face challenges in multiple domains of functioning and health. To address these different domains, interdisciplinary care should be the standard for these patients. The basic algorithm of interdisciplinary care can be similar for patients with different skeletal dysplasias, as many of the problems and needs are generic within different age groups. With increased age the domains in which patients with skeletal dysplasia face challenges will change and the focus and frequency of the interdisciplinary care should change accordingly. Thorough understanding of the specific characteristics of different skeletal dysplasias is required to create an individualized efficient interdisciplinary screening and care program. This paper presents the current structure and rationale of the interdisciplinary screening and care program of the skeletal dysplasia expert center of the University Medical Center Utrecht in the Netherlands. It is presented here, tailored to osteogenesis imperfecta, but the structure of the program is generic for all skeletal dysplasias.PMID:37758161 | DOI:10.1016/j.ejmg.2023.104851
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Source Type: research