Involves defect in FBN1 (Fibrillin-1) gene on chromosome 15 (q15-q23 bands). It is autosomal dominant in nature, presenting with musculoskeletal, cardiac, ocular and other problems.
Skeletal Problems
- Arachnodactyly (spider finger).
- Dolichostenomelia (Long limbs relative to trunk length).
- Thoracolumbar scoliosis.
- Long and narrow skull shape (Diagnostic).
- Hyperextensibility of joints with habitual dislocations.
- Kyphosis (Hunching of back).
- Flat feet.
Cardiovascular Problems
- Aortic dilation.
- Aortic regurgitation.
- Aneurysms.
Ocular Problems
- Myopia.
- Cataract.
- Retinal Detachment.
- Superior dislocation of the lens.
Oral Manifestations
- High arched palate.
- Bifid uvula.
- Malocclusion.
- Temporomandibular Dysarthrosis.
- Multiple odontogenic cysts.
Radiographic Findings
- High arched palate.
- Increased skull height.
- Enlarged frontal sinus.
References
- Shafer, Hine, Levy Shafer's Textbook of Oral Pathology (7th Edition), Editors - R Rajendran, B Sivapathasundharam, Elsevier.
*This article is an excerpt from the above mentioned books and Medical Sutras does not make any ownership or affiliation claims.