TY - CHAP M1 - Book, Section TI - Skeletal Disorders A1 - Jain, Mahim A1 - Sutton, V. Reid A2 - Kline, Mark W. PY - 2018 T2 - Rudolph's Pediatrics, 23e AB - Skeletal dysplasias represent a complex set of disorders that affect bone and/or cartilage, and typical clinical manifestations include short stature and orthopedic complications. Skeletal manifestations are common among this group of disorders; however, findings in other tissues may also be clinically relevant and can help establish the underlying diagnosis. Skeletal features can be diverse but are generally divided into the osteodysplasias (eg, osteogenesis imperfecta), chondrodysplasias (eg, achondroplasia), or dysostoses (eg, spondylocostal dysostosis). Determining the genetic basis of skeletal dysplasias is not only important for counseling and defining recurrence risk, but also for guiding pharmacologic and surgical management. In this chapter, we will review the pathogenesis and epidemiology of this set of disorders and describe clinically relevant skeletal dysplasias in which treatments or medical interventions are available. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/11 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1182931304 ER -