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Thoracolumbar spinal abnormalities in Stickler syndrome
1Department of Orthopaedic Surgery, Johns Hopkins Hospital, Baltimore, Maryland, USA. peterose@mail.nih.gov
Spine
|February 27, 2001
Summary
Spinal abnormalities are common in Stickler syndrome, worsening with age and often causing back pain. Early diagnosis aids management of this connective tissue disorder.
Area of Science:
- Genetics and Hereditary Diseases
- Orthopedics and Musculoskeletal Disorders
- Rheumatology and Connective Tissue Diseases
Background:
- Stickler syndrome is an inherited connective tissue disorder with diverse manifestations.
- Spinal abnormalities in Stickler syndrome have not been extensively studied.
- This study addresses the gap in understanding thoracolumbar spine involvement.
Purpose of the Study:
- To characterize spinal abnormalities in Stickler syndrome.
- To investigate the correlation between spinal issues, age, and back pain.
- To provide insights for clinical management and genetic counseling.
Main Methods:
- Retrospective review of clinical and radiographic data.
- Analysis of 53 patients from 24 families with Stickler syndrome.
- Evaluation of thoracolumbar radiographs for specific spinal abnormalities.
Main Results:
- High prevalence of scoliosis (34%), endplate abnormalities (74%), Schmorl's nodes (64%), platyspondylia (43%), and Scheuermann-like kyphosis (43%).
- Chronic back pain reported by 67% of patients and 85% of adults.
- Spinal abnormalities and adult age correlated with back pain.
Conclusions:
- Spinal abnormalities are nearly universal in Stickler syndrome and progress with age.
- These abnormalities are significantly associated with chronic back pain.
- Early recognition aids in managing systemic issues and provides accurate skeletal prognosis.
