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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Bart syndrome associated with skeletal deformities: An uncommon case report
Mohammad Shahidi-Dadras1, Nasim Niknezhad1, Zahra Asadi-Kani1
1Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Dermatologic Therapy
|October 22, 2019
Summary
Bart syndrome, a rare genetic disorder, typically presents with skin, nail, and blistering issues. This report details an unusual case involving additional skeletal abnormalities and clubfoot.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- Bart syndrome is a rare genetic disorder.
- It is characterized by aplasia cutis congenita, epidermolysis bullosa (EB), and nail abnormalities.
Observation:
- This report describes an unusual case of Bart syndrome.
- The patient presented with features beyond the typical triad.
Findings:
- The case exhibited skeletal abnormalities.
- Bilateral clubfoot was also observed in association with Bart syndrome.
Implications:
- This case expands the known clinical spectrum of Bart syndrome.
- Further research may elucidate the genetic and developmental pathways involved.
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