Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We described a 26-year-old man whose brother has a mottled fundus. Many maternal relatives suffer from myopia and heart disease, and one cousin has arachnodactylia. The patient is very tall and shows various abnormalities such as arachnodactylia, highly arched palate, funnel chest and scoliosis. He also shows hyperextensibility of joints, inguinal hernia, dissecting aneurysm of ascending aorta, dilatation of aortic ring, aortic and mitral insufficiency, myopia and striae distensae. These findings are that of Marfan's syndrome. At the same time, we noticed yellowish papules on the neck, axillae, inguinal region and inner aspect of thighs. Brown patches were found around umbilicus. These skin lesions as well as angioid streaks of fundus are typical for pseudoxanthoma elasticum. This case should be an association by chance of these two genetic affections.
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PMID:[Pseudoxanthoma elasticum associated with Marfan syndrome (author's transl)]. 49 13