Retrospective diagnosis of chondrodysplasia punctata.
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.
Kozlowski
K
K
Department of Medical Imaging, New Children's Hospital, Sydney, New South Wales, Australia. kaz.kozlowski@bigpond.com
Basel
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D
Beighton
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D002648:Child; D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging*; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D011859:Radiography