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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
[Mazabraud syndrome]
J L Martínez-Peniche1, L A Harfush-Nasser1, Y Fernández de Lara-Barrera2
1Ortopedia y Traumatología. Centro Médico ABC. México.
Abstract:
Mazabraud syndrome was first described in 1926 by Henschen, consisting of the association between bone fibrodysplasia and one or more intramuscular myxomas. The study paper conducted by Mazabraud et al. in 1967, described an association between the two pathologies. Later literature referred to this relationship with the eponym described above. In this report, we present the case of a 43-year-old female patient with a known diagnosis of bone fibrodysplasia and subsequent development of a right antecubital fossa mass, which was histologically confirmed as intramuscular myxoma. After the removal of the tumor, the literature was reviewed to find a possible relationship between myxomas and fibrous bone dysplasia, finding positive the association, referred to in the documents reviewed as Mazabraud syndrome.
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