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Achondroplasia with ankylosing spondylitis
L M Randolph1, M Shohat, D Miller
1Department of Medical Genetics-Birth Defects Center, Cedars-Sinai Medical Center, Los Angeles, California 90048.
American Journal of Medical Genetics
|September 1, 1988
Summary
This case report highlights a patient with achondroplasia who developed ankylosing spondylitis, emphasizing the need to consider co-occurring conditions in bone dysplasia patients.
Area of Science:
- Orthopedics
- Rheumatology
- Genetics
Background:
- Achondroplasia is a common bone dysplasia.
- Patients with bone dysplasias may present with atypical orthopedic issues.
- Co-occurring conditions can complicate diagnosis and management.
Purpose of the Study:
- To report a rare case of achondroplasia co-occurring with ankylosing spondylitis.
- To emphasize the importance of considering differential diagnoses in patients with bone dysplasias.
- To highlight the association between HLA B-27 and ankylosing spondylitis.
Main Methods:
- Case report of a 41-year-old male with achondroplasia.
- Clinical evaluation including patient history and physical examination.
- Radiographic assessment of the spine and sacroiliac joints.
- HLA B-27 genetic testing.
Main Results:
- The patient presented with progressive spinal rigidity, neck, and back pain.
- Radiographs confirmed sacroiliac joint fusion and cervical spine fusion.
- The patient was positive for HLA B-27.
- Diagnosis of ankylosing spondylitis was established.
Conclusions:
- Achondroplasia can co-exist with other conditions, including inflammatory arthropathies.
- Ankylosing spondylitis should be considered in the differential diagnosis of spinal pain in achondroplasia patients.
- HLA B-27 positivity supports the diagnosis of ankylosing spondylitis.