Abstract
The authors report on 18 members of four generations of an alkaptonuric family. All three males in the third generation are clinically affected; two members of the family tree have undergone major joint surgery.
MeSH terms
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Alkaptonuria / complications
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Alkaptonuria / genetics*
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Family
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Female
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Genes, Recessive*
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Humans
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Joint Diseases / etiology
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Joint Diseases / genetics*
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Joint Diseases / surgery
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Male
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Middle Aged
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Ochronosis / complications
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Ochronosis / genetics*
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Pedigree
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Pelvic Bones / diagnostic imaging
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Radiography
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Spine / diagnostic imaging