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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1977 Oct;14(5):359–361. doi: 10.1136/jmg.14.5.359

Probable autosomal recessive Marfan syndrome.

K Fried, D Krakowsky
PMCID: PMC1013621  PMID: 592353

Abstract

A probable autosomal recessive mode of inheritance is described in a family with two affected sisters. The sisters showed the typical picture of Marfan syndrome and were of normal intelligence. Both parents and all four grandparents were personally examined and found to be normal. Homocystinuria was ruled out on repeated examinations. This family suggests genetic heterogeneity in Marfan syndrome and that in some rare families the mode of inheritance may be autosomal recessive.

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Selected References

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  1. Fried K., Mundel G. Polysyndactyly and Marfan's syndrome. J Med Genet. 1974 Jun;11(2):141–144. doi: 10.1136/jmg.11.2.141. [DOI] [PMC free article] [PubMed] [Google Scholar]

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