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Ehlers danlos syndrome - a case report
Pragati Kaurani1, Nikhil Marwah2, Mayank Kaurani3
1Reader, Department of Prosthodontics, Mahatma Gandhi Dental College and Hospital , Jaipur, India .
Summary
Ehlers-Danlos syndrome (EDS) is a rare inherited connective tissue disorder. This case study details a 10-year-old boy diagnosed with EDS, highlighting key clinical, radiographic, and histological findings.
Area of Science:
- Genetics
- Rheumatology
- Dermatology
Background:
- Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder affecting collagen.
- It is characterized by joint hypermobility and skin hyperextensibility.
Observation:
- A rare case of EDS in a 10-year-old boy is presented.
- The diagnosis was based on a comprehensive evaluation.
Findings:
- Clinical examination revealed characteristic signs of EDS.
- Radiographic and histological analyses confirmed the diagnosis.
Implications:
- This case contributes to understanding EDS presentations in pediatric patients.
- It underscores the importance of integrated diagnostic approaches for rare genetic disorders.
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