Genetic skeletal dysplasias: A guide to diagnosis and management

摘要: The skeletal dysplasias are a large, heterogeneous group of genetic disorders characterised by abnormal growth, development and remodelling the bones cartilage that comprise human skeleton. They typically present with disproportionate short stature in childhood, or premature osteoarthritis adulthood. latest classification lists 456 under 40 headings differentiated specific clinical, radiographic molecular criteria. Establishing an accurate diagnosis is important to predict final height, expected complications treatment, for psychological counselling. In addition disorder, individuals frequently demonstrate abnormalities hearing, vision, neurological, pulmonary, renal cardiac function require multidisciplinary assessment. This review provides guide discusses management principles common limb spinal affect quality life majority.