Retrospective diagnosis of chondrodysplasia punctata |
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Authors: | Kozlowski K Basel D Beighton P |
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Affiliation: | Department of Medical Imaging, New Children's Hospital, Sydney, New South Wales, Australia. kaz.kozlowski@bigpond.com |
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Abstract: | The diagnosis of punctate epiphyseal dysplasia (PED) after disappearance of puncta is problematical. In some instances, however, the phenotypic and radiographic characteristics may persist and permit a retrospective diagnosis of PED in persons with unclassified bone dysplasia or bone changes of unknown origin. We report a boy aged 8 years who presented with unusual bony abnormalities that were consistent with a diagnosis of PED. |
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