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, Leigh Quarles, Marc K. Drezner

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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
Externally publishedYes

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Familial Hypophosphatemic Rickets
Rickets
Wrist
Knee
Motion Pictures

All Science Journal Classification (ASJC) codes

  • Radiology Nuclear Medicine and imaging

Cite this

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

X-linked hypophosphatemic rickets without "rickets". / Econs, Michael J.; Feussner, John R.; Samsa, Gregory P.; Effman, Eric L.; Vogler, James B.; Martinez, Salutario; Friedman, Nancy E.; Quarles, Leigh; Drezner, Marc K.

In: Skeletal Radiology, Vol. 20, No. 2, 01.02.1991, p. 109-114.

Research output: Contribution to journalArticle

Econs, MJ, Feussner, JR, Samsa, GP, Effman, EL, Vogler, JB, Martinez, S, Friedman, NE, Quarles, L & Drezner, MK 1991, 'X-linked hypophosphatemic rickets without "rickets"', Skeletal Radiology, vol. 20, no. 2, pp. 109-114. https://doi.org/10.1007/BF00193821
Econs MJ, Feussner JR, Samsa GP, Effman EL, Vogler JB, Martinez S et al. X-linked hypophosphatemic rickets without "rickets". Skeletal Radiology. 1991 Feb 1;20(2):109-114. https://doi.org/10.1007/BF00193821
Econs, Michael J. ; Feussner, John R. ; Samsa, Gregory P. ; Effman, Eric L. ; Vogler, James B. ; Martinez, Salutario ; Friedman, Nancy E. ; Quarles, Leigh ; Drezner, Marc K. / X-linked hypophosphatemic rickets without "rickets". In: Skeletal Radiology. 1991 ; Vol. 20, No. 2. pp. 109-114.
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