Skeletal dysplasias

Abstract

Introduction 291 Classification and genetics of skeletal dysplasias 291 Clinical evaluation of the short child with suspected skeletal dysplasia 292 Development of height and body proportion in skeletal dysplasias 292 Orthopedic, neurological and other medical problems 297 Effect of growth hormone treatment, and bone-lengthening on height and body proportion 298 Professional team for diagnosis, handling and prospective surveillance of patients with skeletal dysplasias 299 Achondroplasia 299 Hypochondroplasia 302 Leri-Weill dyschondrosteosis 303 Multiple epiphyseal dysplasia 305 Pseudoachondroplasia 305 The type II and type XI collagenopathies 306 Spondyloepiphyseal dysplasia congenita 307 Kniest dysplasia 308 Stickler syndrome 308 Spondyloepiphyseal dysplasia tarda 309 Osteogenesis imperfecta 309 Diastrophic dysplasia 310 Cartilage hair hypoplasia 312 Key learning points 313 References 313 Skeletal dysplasias comprise a wide and heterogeneous group of disorders that have a generalized defect in skeletal development as a common trait. Linear growth and body proportion are also usually disturbed resulting in disproportionate short stature. However, the degree of severity may vary from the lethal entities or those conferring profoundly short stature to those going with mostly unaltered stature but with early onset osteoarthrosis. Altogether, more than 100 well described entities can be considered belonging to the skeletal dysplasias. An international classification system, last updated in 2001,1 aims at grouping related entities based on molecular background or radiological/clinical similarities.