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Bart syndrome with musculoskeletal deformity: a rare case report
Sanish Pokhrel1, Zenish Niraula1, Pradip Ghimire1
1Nepal Medical College and Teaching Hospital, Kathmandu, Nepal.
Annals of Medicine and Surgery (2012)
|December 9, 2024
Summary
Bart syndrome, a rare genetic disorder, presents with epidermolysis bullosa and skin/nail abnormalities. This case highlights an uncommon musculoskeletal deformity presentation in a 14-year-old boy.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- Bart syndrome is a rare genetic disorder characterized by epidermolysis bullosa (EB) and aplasia cutis congenita.
- It is an inherited autosomal dominant disorder, often associated with the Dystrophic type of EB.
- Musculoskeletal deformity is an uncommon, yet significant, presentation.

