Spinal Manifestations of Skeletal Dysplasias

Lau, Leok-Lim; Helenius, Ilkka; Mackenzie, William G.

doi:10.1007/978-3-030-84393-9_22

Cited by 1 publication

(1 citation statement)

References 60 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, kyphoscoliosis associated with metatropic dysplasia, chondrodysplasia punctata, and DD often demonstrates early, severe progression. 26 Kyphoscoliosis in DD has been classified by the age of onset, curve pattern, and rate of progression, with an early progressive type that can develop a severe, rigid z-shaped deformity. 27 Owing to the severe progressive nature of the curvature and high likelihood of neuromonitoring changes during surgical intervention, early treatment is often warranted.…”

Section: Kyphoscoliosismentioning

confidence: 99%

Spinal Manifestations of Skeletal Dysplasia: A Practical Guide for Clinical Diagnosis

Tetreault,

Andras,

Tolo

2024

J Am Acad Orthop Surg

View full text Add to dashboard Cite

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.

show abstract

Section: Kyphoscoliosismentioning

confidence: 99%