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.
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Presented in part at the annual scientific meeting of the American Society of Bone and Mineral Research, New Orleans, June 3–7, 1988. Part of this work has appeared in abstract form in J Bone Min Res (1988) 3 [Suppl 1]:S132
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Econs, M.J., Feussner, J.R., Samsa, G.P. et al. X-linked hypophosphatemic rickets without “rickets”. Skeletal Radiol. 20, 109–114 (1991). https://doi.org/10.1007/BF00193821
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DOI: https://doi.org/10.1007/BF00193821