X-linked hypophosphatemic rickets without "rickets"

Michael J. Econs, John R. Feussner, Gregory P. Samsa, Eric L. Effman, James B. Vogler, Salutario Martinez, Nancy E. Friedman, L. Darryl Quarles, Marc K. Drezner

Research output: Contribution to journalArticle

21 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)109-114
Number of pages6
JournalSkeletal Radiology
Volume20
Issue number2
DOIs
StatePublished - Feb 1 1991

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Keywords

  • Rickets
  • X-linked hypophosphatemia

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

Cite this

Econs, M. J., Feussner, J. R., Samsa, G. P., Effman, E. L., Vogler, J. B., Martinez, S., Friedman, N. E., Quarles, L. D., & Drezner, M. K. (1991). X-linked hypophosphatemic rickets without "rickets". Skeletal Radiology, 20(2), 109-114. https://doi.org/10.1007/BF00193821