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- W162043058 abstract "The chapter explains the systemic associations of ectopia lentis and Ehlers–Danlos syndrome. Marian's syndrome is a dominantly inherited widespread abnormality of connective tissue. Bacterial endocarditis may occur even in the presence of mild cardiac anomalies. Homocystinuria is a rare, recessively inherited disorder of methionine metabolism because of a deficiency of cystathione-ß-synthetase. There are no characteristic features in infancy and early detection relies on the screening of the urine of newborn babies. The clinical diagnosis may be difficult because the age of onset, severity, and pattern manifestations vary widely. The typical untreated homocystinuric is asymptomatic in infancy and subsequently develops ectopia lentis, mental handicap, skeletal disorders, and life-threatening thromboembolic episodes. Ehlers–Danlos syndrome is a rare, usually dominantly inherited, disorder of collagen caused by the deficiency of hydroxylysine. Retinitis pigmentosa is a generic name for a group of inherited diseases characterized by night blindness and constricted visual fields." @default.
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- W162043058 date "1990-01-01" @default.
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- W162043058 title "Miscellaneous disorders" @default.
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- W162043058 doi "https://doi.org/10.1016/b978-0-7506-1024-7.50018-6" @default.
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