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Clausen

Clausen –>
Dyggve-Melchior-clausen syndrome
(Science: syndrome) An osteochondrodysplasia that clinically resembles morquios syndrome, but without excretion of mucopolysaccharides; characterised by mental retardation, short stature, progressive sternal bulging, flattening of vertebral bodies and iliac crests, shortening of metacarpals, and changes in long bones; autosomal recessive inheritance, but there is an x-linked form.
Dyskinesia, clearance of mucus is sluggish and bronchiectasis is prevalent and intractable. There is evidence that the defect lies in dynein, a protein in the cilia. The pattern of inheritance is apparently autosomal recessive however multiple versions may exist.


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