Medical Definition of Melchior syndrome
1.
An osteochondrodysplasia that clinically resembles Morquio's 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.
(05 Mar 2000)
Lexicographical Neighbors of Melchior Syndrome
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