Thoracolumbar spinal abnormalities in Stickler syndrome

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.