title: [Genetic basis for skeletal disease. Radiological approach for genetic skeletal disorders].
abstract: Genetic skeletal disorders comprise two broad categories, including bone dysplasia and dysostosis. Bone dysplasia refers to disorders in which the entire skeleton is more or less affected, while dysostosis to disorders in which individual bones are affected singly or in combination. The former occurs as a result of impaired genes (proteins) that play a pivotal role in both organogenesis and maintenance of bone and cartilage, while the latter as a result of impaired genes (proteins) that are important only in the organogenesis. In this review, the author focuses on radiological signs and their pathogenic mechanism commonly seen in bone dysplasias. However, it is important to realize that a radiological diagnosis of bone dysplasias depends on an overall pattern of skeletal abnormalities rather than single radiological signs, alone or in combination.
authors.affiliation: Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
mesh_terms: D001846:Bone Development; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000235:genetics*; D016723:Bone Remodeling; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002356:Cartilage / Q000000981:diagnostic imaging / Q000254:growth & development; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics; D004413:Dysostoses / Q000000981:diagnostic imaging* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011859:Radiography
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit