X-linked hypophosphatemic rickets without "rickets"

• Published in: Skeletal radiology Vol. 20; no. 2; p. 109
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Germany 01.01.1991
• Subjects: Adolescent; Child; Child, Preschool; Female; Genetic Linkage; Humans; Hypophosphatemia, Familial - diagnostic imaging; Hypophosphatemia, Familial - epidemiology; Hypophosphatemia, Familial - genetics; Infant; Knee - diagnostic imaging; Male; Observer Variation; Prevalence; Radiography; Rickets - diagnostic imaging; Rickets - epidemiology; Rickets - genetics; Single-Blind Method; Wrist - diagnostic imaging; X Chromosome
• ISSN: 0364-2348
• DOI: 10.1007/BF00193821

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.