Retrospective diagnosis of chondrodysplasia punctata. Australas Radiol 2006 Feb;50(1):55-8
Date
02/28/2006Pubmed ID
16499729DOI
10.1111/j.1440-1673.2005.01531.xScopus ID
2-s2.0-33645997670 (requires institutional sign-in at Scopus site)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 PAuthor
Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
ChildChondrodysplasia Punctata
Diagnosis, Differential
Humans
Male
Radiography
