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Updated: Jun 19, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
Bart's syndrome
Aruna Rajpal1, R Mishra, K Hajirnis
1Department of Dermatology and Venerology, KJ Somaiya Medical College and Research Centre, Mumbai, India. somaiyamedical@hotmail.com
Abstract:
A new-born girl presented with congenital absence of skin on the right leg and nail abnormalities. On second day of life, she developed multiple blistering skin lesions and died on seventeenth day of life. A positive family history of two other siblings, one male and one female who had blistering skin lesions and died within one and a half month of birth, was present. The diagnosis of Bart's syndrome was made on clinical presentation, family history and skin biopsy.
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