title: A review of the principles of radiological assessment of skeletal dysplasias.
abstract: There are more than 450 well-characterized skeletal dysplasias classified primarily on the basis of clinical, radiographic, and molecular criteria. In the latest 2010 revision of the Nosology and Classification of Genetic Skeletal Disorders, an increase from 372 to 456 disorders had occurred in the four years since the classification was last revisited in 2007. These entities in total represent about 5% of children with birth defects. An accurate diagnosis of a skeletal dysplasia is still based on detailed evaluation of clinical and radiographic [as well as chondro-osseous] findings. Regardless of the specific diagnosis, skeletal dysplasias in general share clinical and radiological findings helping us to group them in several ways. This review aims to outline the diagnostic approach to disproportionate short stature with special emphasis on radiological findings.
authors.affiliation: Pediatric Genetics Unit, Department of Pediatrics, Faculty of Medicine, Acibadem University, Istanbul, Turkey. yalanay@gmail.com
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Alanay
authors.forename: Ralph S
authors.initials: RS
authors.lastname: Lachman
mesh_terms: D015519:Bone Density; D001846:Bone Development; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000000981:diagnostic imaging*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D003095:Collagen Diseases / Q000000981:diagnostic imaging; D004392:Dwarfism / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D011859:Radiography