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- W2088698997 abstract "In order to elucidate demographic and nosologic characteristics of Marfan syndrome (MS) and other systemic disorders associated with congenital ectopia lentis (ECL) in Denmark, a register of affected persons was established in a nationwide retrospective study. Three hundred and forty patients with MS (180M, 160F) were registered. By January 1, 1993, the estimated prevalence rate of MS was 4.6/100,000. An estimated average birth rate of 0.96/10,000 live born was found. The mean age at death was decreased (38 +/- 18 y) mainly due to cardiovascular complications. Correspondingly, a median cumulative probability of survival of 57 y (males) and 58 y (females) was found. Only seven patients with ECL as manifestation of other systemic disorders were diagnosed in the material, i.e. three patients with homocystinuria, two patients with Weill-Marchesani syndrome, and another 2 patients with sulphite oxidase deficiency. In a further 122 cases with ECL a nosologic diagnosis could not be established due to unavailable or insufficient information. This group may comprise patients with MS and other systemic disorders as well as patients with non-systemic ECL. In retrospect, the differential diagnostic activity for patients with congenital ectopia lentis has been insufficient during the last few decades and a common protocol for diagnosis, control and treatment of ECL is needed." @default.
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- W2088698997 date "1997-09-01" @default.
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- W2088698997 title "Marfan syndrome and other systemic disorders with congenital ectopia lentis. A Danish national survey" @default.
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- W2088698997 doi "https://doi.org/10.1111/j.1651-2227.1997.tb15176.x" @default.
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