title: Skeletal dysplasias.
abstract: The skeletal dysplasias are a group of more than 450 heritable disorders of bone. They frequently present in the newborn period with disproportion, radiographic abnormalities, and occasionally other organ system abnormalities. For improved clinical care, it is important to determine a precise diagnosis to aid in management, familial recurrence, and identify those disorders highly associated with mortality. Long-term management of these disorders is predicated on an understanding of the associated skeletal system abnormalities, and these children are best served by a team approach to health care surveillance.
authors.affiliation: Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, BSRB/OHRC 615 Charles E. Young Drive South, Room 410, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine at UCLA, BSRB/OHRC 615 Charles E. Young Drive South, Room 410, Los Angeles, CA 90095, USA; Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, BSRB/OHRC 615 Charles E. Young Drive South, Room 410, Los Angeles, CA 90095, USA. Electronic address: dkrakow@mednet.ucla.edu.
authors.forename: Deborah
authors.initials: D
authors.lastname: Krakow
mesh_terms: D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D014943:Global Health; D006801:Humans; D007231:Infant, Newborn; D009017:Morbidity
keywords: Achondroplasia; Nonassortive mating; Osteochondrodysplasias; Osteogenesis imperfecta; Skeletal dysplasias; Type II collagenopathies