Genetic basis for skeletal disease. Radiological approach for genetic skeletal disorders
Nishimura, G.
Clinical Calcium 20(8): 1175-1181
2010
ISSN/ISBN: 0917-5857 PMID: 20675927 Document Number: 639621
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.