| Literature DB >> 26042906 |
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.Entities:
Keywords: Achondroplasia; Nonassortive mating; Osteochondrodysplasias; Osteogenesis imperfecta; Skeletal dysplasias; Type II collagenopathies
Mesh:
Year: 2015 PMID: 26042906 PMCID: PMC4456691 DOI: 10.1016/j.clp.2015.03.003
Source DB: PubMed Journal: Clin Perinatol ISSN: 0095-5108 Impact factor: 3.430