[The clinical picture and histology of Marfan's syndrome (author's transl)].
In two tall, mentally subnormal patients (brother and sister) with long extremities and fingers, fine fair hair and subluxation or luxation of lenses Marfan syndrome was suspected originally. The male patient died aged 13 after an ophthalmic operation of thrombosis of cerbral sinuses. The correct diagnosis of homocystinuria was assumed subsequently and verified. Characteristic histologic changes of the vessel walls were found in the deceased male patient's histologic specimens won 13 years ago: fibrosis of intima, fragmantation of elastic fibres, accumulation of intercellular matter in media and defects in membrana elastic interna.
D000293:Adolescent; D000328:Adult; D004547:Elastic Tissue / Q000473:pathology; D005128:Eye Diseases / Q000209:etiology / Q000473:pathology; D005260:Female; D006712:Homocystinuria / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000150:complications / Q000175:diagnosis* / Q000473:pathology
Zur Klinik and Histologie der Homozystinurie