X-linked hypophosphatemic rickets without "rickets".

Journal Article (Journal Article)

Wrist and knee radiographs from children with X-linked hypophosphatemic rickets were analyzed and compared with those from normal children and children with established rickets to assess whether radiographically apparent rickets is a consistent abnormality in X-linked hypophosphatemia. The absence or presence of rickets was correctly identified in 94.8% of wrist and knee films from normal and positive controls. In contrast, patients with X-linked hypophosphatemia exhibited rachitic abnormalities in only 5 of 11 wrist and 13 of 15 knee radiographs. As a result, 4 patients within this study group had rickets at the knee and not at the wrist, whereas 5 displayed classic defects at both sites. Perhaps more important, 2 patients, aged 3.8 and 5.2 years, displayed no evidence of rickets in either wrist or knee films, although relatives exhibited demonstrable rachitic abnormalities. Our data indicate that radiographically detectable rickets is a variable abnormality of X-linked hypophosphatemia and does not provide an unambiguous index for the diagnosis of this disease.

Full Text

Duke Authors

Cited Authors

  • Econs, MJ; Feussner, JR; Samsa, GP; Effman, EL; Vogler, JB; Martinez, S; Friedman, NE; Quarles, LD; Drezner, MK

Published Date

  • 1991

Published In

Volume / Issue

  • 20 / 2

Start / End Page

  • 109 - 114

PubMed ID

  • 2020857

International Standard Serial Number (ISSN)

  • 0364-2348

Digital Object Identifier (DOI)

  • 10.1007/BF00193821


  • eng

Conference Location

  • Germany