title: Probable autosomal recessive Marfan syndrome.
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.
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D010375:Pedigree