TY - CHAP M1 - Book, Section TI - Chapter 179. Genetic Skeletal Disorders A1 - Carey, John C. A1 - Bamshad, Michael J. A2 - Rudolph, Colin D. A2 - Rudolph, Abraham M. A2 - Lister, George E. A2 - First, Lewis R. A2 - Gershon, Anne A. PY - 2011 T2 - Rudolph's Pediatrics, 22e AB - Skeletal dysplasias are generalized disorders of bone and/or cartilage that can produce short stature, osseous deformity, and functional disabilities. More than 372 different genetic disorders of the skeleton have been described by the International Skeletal Dysplasia Society as constitutional diseases of bone1; collectively, dysplasias represent most of the intrinsic disorders of bone with the dysostoses comprising the rest. The overall frequency of the skeletal dysplasias is about 1 in 4000 births,2 making this class of disorders about as common as neurofibromatosis type 1 or Turner syndrome, conditions much better known to the pediatric practitioner. SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=6728983 ER -