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