title: The skeletal dysplasias.
abstract: The skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than 350 disorders frequently associated with orthopedic complications and varying degrees of dwarfism or short stature. These disorders are diagnosed based on radiographic, clinical, and molecular criteria. The molecular mechanisms have been elucidated in many of these disorders providing for improved clinical diagnosis and reproductive choices for affected individuals and their families. An increasing variety of medical and surgical treatment options can be offered to affected individuals to try to improve their quality of life and lifespan.
authors.affiliation: Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA. dkrakow@mednet.ucla.edu
authors.forename: Deborah
authors.initials: D
authors.lastname: Krakow
authors.forename: David L
authors.initials: DL
authors.lastname: Rimoin
mesh_terms: D006801:Humans; D010009:Osteochondrodysplasias / Q000473:pathology* / Q000601:surgery; D011788:Quality of Life