Objective Homocystinuria is an inborn error of amino acid metabolism caused by cystathionine beta-synthase deficiency that affects methionine metabolism. The clinical features are heterogeneous ranging from mental retardation, ectopia lentis, and osteoporosis to vascular events such as deep vein thrombosis, sagital sinus thrombosis, and myocardial infarction. Cerebral sinovenous thrombosis (CVS...

IT IS generally agreed that the Marfan syndrome is a heritable disorder of connective tissue characterized by widespread malformations affecting the musculoskeletal, cardiovascular, and ocular systems. It was first described by Marfan in 1896 under the name of dolichostenomelie.' In 1902 Archard presented a case and called the syndrome arachnodactyly.2 Thus, the musculoskeletal malformations we...

IT IS generally agreed that the Marfan syndrome is a heritable disorder of connective tissue characterized by widespread malformations affecting the musculoskeletal, cardiovascular, and ocular systems. It was first described by Marfan in 1896 under the name of dolichostenomelie.' In 1902 Archard presented a case and called the syndrome arachnodactyly.2 Thus, the musculoskeletal malformations we...

We have found abnormal fibrillin microfibrils isolated from tissues and cell cultures from two cousins with Marfan syndrome whose major clinical abnormality is bilateral ectopia lentis, but who also have skeletal involvement but no cardiovascular defects. Ultrastructural analysis of ciliary zonules showed the presence of abundant loose microfibril bundles which in many places appeared disorgani...

Homocystinuria, a condition associated with decreased hepatic cystathionine synthetase activity (Mudd, Finkelstein, Irreverre, and Laster, 1964), is characterized by increased urinary homocystine and methionine, by increased serum methionine levels, and by low cystathionine levels in brain (Gerritsen and Waisman, 1964b). It is not known how these biochemical findings are related to the multiple...