Abstract
The authors describe the 17-year follow-up of the (to their knowledge) only adult and only female patient affected with kyphomelic dysplasia so far described in the literature, with assessment of the phenotypic, orthopedic, and radiologic progression of this syndrome.
MeSH terms
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Achondroplasia / diagnostic imaging
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Achondroplasia / genetics
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Adolescent
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Adult
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Bone Diseases, Developmental / diagnostic imaging
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Bone Diseases, Developmental / genetics*
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Bone and Bones / diagnostic imaging
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Child
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Child, Preschool
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Diagnosis, Differential
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Dwarfism / diagnostic imaging
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Dwarfism / genetics*
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Ectromelia / diagnostic imaging
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Ectromelia / genetics*
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Female
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Follow-Up Studies
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Humans
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Radiography