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Recessive autosomal inheritance in Marfan syndrome

Alvarez-Arratia, M.C.; Muñoz, A.; Martínez Camacho, S.; Buendía Hernández, A.; Attie, F.; Fragoso, R.; García Cruz, D.; Cantú, J.M.

Archivos del Instituto de Cardiologia de Mexico 62(4): 379-382

1992

ISSN/ISBN: 0020-3785
PMID: 1417357
Document Number: 391613
Three brothers 9, 12, and 14 years of age were studied. The three of them fulfilled the diagnostic criteria of Marfan Syndrome that was made based on physical and ophthalmologic examination, these criteria included musculoskeletal abnormalities, subluxation of lens, myopia and aortic aneurysm. The three siblings died due to complications of the aortic aneurysm, which had an early onset as well as the other clinical manifestations of the disease. They were 2 brothers and one sister. There was neither mental or psychomotor retardation, nor metabolic disease in any of the patients. Family history did not show any clinical manifestation of the disease in parents or grandparents. We propose that the hereditary pattern is recessive autosomic instead of dominant autosomic given the features of these cases and their history.

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