Article ; Online: Spinal Manifestations of Skeletal Dysplasia: A Practical Guide for Clinical Diagnosis.
The Journal of the American Academy of Orthopaedic Surgeons
2024 Volume 32, Issue 9, Page(s) e425–e433
Abstract: Skeletal dysplasias are a group of genetic conditions defined by atypical bone or cartilage growth and development. Skeletal abnormalities include short stature, limb deformity, joint contracture, and spinal deformity. Over 90% of disorders have a known ... ...
Abstract | Skeletal dysplasias are a group of genetic conditions defined by atypical bone or cartilage growth and development. Skeletal abnormalities include short stature, limb deformity, joint contracture, and spinal deformity. Over 90% of disorders have a known genetic mutation that can definitively determine the diagnosis. As patients may present with a primary spinal concern, a careful clinical and radiographic evaluation can allow the physician to develop a working diagnosis to guide additional evaluation. Spinal manifestations include scoliosis and kyphoscoliosis, cervical instability, cervical kyphosis, thoracolumbar kyphosis, spinal stenosis, and atypical vertebral body morphology. An understanding of the affected conditions, prevalence, and natural history of these radiographic findings aids the orthopaedic surgeon in establishing a diagnosis and guides appropriate orthopaedic care. |
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MeSH term(s) | Humans ; Spine/diagnostic imaging ; Spine/surgery ; Scoliosis/diagnosis ; Scoliosis/etiology ; Scoliosis/surgery ; Kyphosis/etiology ; Kyphosis/surgery ; Dwarfism ; Spinal Stenosis |
Language | English |
Publishing date | 2024-03-12 |
Publishing country | United States |
Document type | Journal Article |
ZDB-ID | 1200524-1 |
ISSN | 1940-5480 ; 1067-151X |
ISSN (online) | 1940-5480 |
ISSN | 1067-151X |
DOI | 10.5435/JAAOS-D-23-00974 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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