This review compares lower limb deformities, highlighting varied prevalence of genu varum and genu valgum in hypophosphatemic rickets.
Background/Objectives: Rickets is a pediatric disorder caused by impaired mineralization of the growth plate, primarily due to deficiencies in vitamin D, calcium, or phosphate. Lower limb deformities are among the most clinically relevant skeletal manifestations, significantly affecting quality of life. This review aims to summarize and compare lower limb deformities associated with different etiologies of rickets, specifically hypophosphatemic (HPR) and calcipenic (CR) forms. Methods: A systematic PubMed search was performed according to PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) 2020 guidelines. Of 2056 screened records, 126 studies including 21,568 patients met the inclusion criteria. Data on study characteristics, deformity types, and diagnostic methods were extracted and analyzed descriptively, with subgroup comparison between HPR and CR. Results: Among 2924 patients with reported with deformities (1537 CR, 1387 HPR), genu varum and genu valgum predominated, while windswept deformities were less frequent. Sagittal and torsional deformities, particularly femoral and tibial maltorsion or procurvatum, were mainly described in HPR but rarely reported in CR. Only a minority of studies met predefined quality standards regarding radiological assessment and deformity definition. Conclusions: Lower limb deformities are prevalent in both HPR and CR but differ significantly in type and documentation quality. While coronal plane deformities are common across both types, axial and sagittal deformities appear under-reported in rickets, particularly in CR. The results highlight the need for standardized diagnostic criteria and improved reporting in order to enhance comparability and clinical management of rickets-related deformities.
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Mayr et al. (2025) studied this question.
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