From the Jackie and Gene Autry Children's Orthopedic Center, Children's Hospital Los Angeles, Los Angeles, CA.
J Am Acad Orthop Surg. 2024 May 1;32(9):e425-e433. doi: 10.5435/JAAOS-D-23-00974. Epub 2024 Mar 12.
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.
骨骼发育不良是一组由骨或软骨生长和发育异常引起的遗传疾病。骨骼异常包括身材矮小、肢体畸形、关节挛缩和脊柱畸形。超过 90%的疾病都有已知的基因突变，可以明确确定诊断。由于患者可能主要表现为脊柱问题，仔细的临床和影像学评估可以帮助医生做出初步诊断，以指导进一步评估。脊柱表现包括脊柱侧凸和后凸、颈椎不稳定、颈椎后凸、胸腰椎后凸、脊柱狭窄和椎体形态异常。了解这些影像学表现的相关疾病、患病率和自然史有助于骨科医生做出诊断，并指导适当的骨科治疗。
