| Literature DB >> 9066881 |
Abstract
The neurologic manifestations of the skeletal dysplasias are reviewed. Three important major groups are identified: Achondroplasia (cranio-cervical junction problems in infancy, spinal stenosis and neurogenic claudication in the adult). Type II collagenopathies (upper cervical spine anatomic and functional problems), and craniotubular and sclerosing bone dysplasias (osseous overgrowth with foraminal obstruction problems). The remainder of the well-identified 150 or so bone dysplasias are also evaluated in depth for their diverse neurologic abnormalities. The findings discussed are important both for the diagnosis and management of these patients.Entities:
Mesh:
Year: 1997 PMID: 9066881 DOI: 10.1002/(sici)1096-8628(19970303)69:1<33::aid-ajmg7>3.0.co;2-u
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299