Orthopaedic Problems in Inherited Skeletal Disorders

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منابع مشابه

Clinical and Genetic Studies of Three Inherited Skeletal Disorders

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Recent years are witnessing key developments in treatment approaches for congenital bleeding disorders (CBD), in particular the hemophilias, but also other factor deficiencies.1,2 Moreover, cooperative multinational efforts are providing advances in our knowledge of pathophysiological, clinical, and management aspects of these disorders, including the more rare abnormalities.3–6 However, despit...

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Although inherited fibrinogen disorders (IFD) are primarily considered to be bleeding disorders, they are associated with a higher thrombotic complication risk than defects in other clotting factors. Managing IFD patients with thrombosis is challenging as anticoagulant treatment may exacerbate the underlying bleeding risk which can be life-threatening. Due to the low prevalence of IFD, there is...

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Recessively inherited coagulation disorders.

Deficiencies of coagulation factors other than factor VIII and factor IX that cause bleeding disorders are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500 000 and 1 in 2 million for the homozygous forms. As a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecu...

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Inherited hyperuricemic disorders.

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ژورنال

عنوان ژورنال: Annals of the Rheumatic Diseases

سال: 1983

ISSN: 0003-4967

DOI: 10.1136/ard.42.2.240-d