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Updated: May 21, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
Do you know this syndrome?
Luiz Maurício Costa Almeida1, Michelle dos Santos Diniz, Lorena dos Santos Diniz
1Santa Casa de Misericordia de Belo Horizonte, MG, Brazil.
Abstract:
Goldenhar syndrome is a sporadic or inherited genetic syndrome characterized by limbal dermoids, preauricular skin tags and mandibular hypoplasia. Vertebral abnormalities may occur. The incidence of this syndrome ranges from 1 in 5,600 to 1 in >20,000 live births. It consists of abnormalities involving the first and second branchial arches. The etiology of the syndrome is heterogeneous. Diagnosis should be based principally on clinical aspects, which should be associated with the patient's systemic conditions and radiologic findings. Treatment depends on the patient's age and systemic manifestations, with a multidisciplinary approach often being required.
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