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Retrospective diagnosis of chondrodysplasia punctata. Australas Radiol 2006 Feb;50(1):55-8 PMID: 16499729

Pubmed ID

16499729

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.

Author List

Kozlowski K, Basel D, Beighton P

Author

Donald Basel MD Chief, Associate Professor in the Pediatrics department at Medical College of Wisconsin




Scopus

2-s2.0-33645997670

MESH terms used to index this publication - Major topics in bold

Child
Chondrodysplasia Punctata
Diagnosis, Differential
Humans
Male
Radiography
jenkins-FCD Prod-331 a335b1a6d1e9c32173c9534e6f6ff51494143916