Aug 2026· Turkish Journal of Pediatric Disease· 0 citations
TL;DR
Evaluation of skeletal health in children with OI should not rely solely on BMD measurements; vertebral fractures, biochemical markers, growth, and environmental factors should also be considered.
Abstract
Objective: Osteogenesis imperfecta (OI) is an uncommon hereditary disorder of connective tissue that results in fragile bones due to abnormalities in collagen structure. This study aimed to evaluate bone health in children with OI who were hospitalized for fracture treatment.
Materials and Methods: This retrospective observational study reviewed the records of children aged 3–18 years and diagnosed with OI and hospitalized in the pediatric orthopedics ward for fractures between May 1, 2023, and January 31, 2026. The patients’ demographic characteristics, biochemical parameters, bone mineral density (BMD) Z-scores, vertebral radiographs, vitamin D levels, sun exposure, and treatment status were evaluated.
Results: A total of 37 patients participated in the study. The average age of the patients was 10.35±3.82 years, and 78.4% were male. Mean BMD Z-score was -1.44±1.61. Vertebral fractures were present in 27% of the patients. Significant differences were observed between groups stratified by vitamin D levels for age (p = 0.020), serum calcium (p = 0.003), phosphorus (p = 0.005), alkaline phosphatase (p = 0.027), parathyroid hormone (p = 0.018), and BMD Z-score (p = 0.023). Patients with vitamin D deficiency showed lower serum calcium levels and BMD Z-scores. Additionally, a statistically significant positive correlation was identified between BMD Z-score and serum calcium levels (r=0.343; p=0.038).
Conclusion: Evaluation of skeletal health in children with OI should not rely solely on BMD measurements; vertebral fractures, biochemical markers, growth, and environmental factors should also be considered. Collaboration between pediatric orthopedics and pediatric endocrinology is vital for better long-term outcomes.
Evaluation of skeletal health in children with OI should not rely solely on BMD measurements; vertebral fractures, biochemical markers, growth, and environmental factors should also be considered.
Metabolic factors, vitamin D levels, and functional limitations influence bone health and the development of secondary osteoporosis in children with CP and a significant negative correlation was found between GMFCS level and BMD.
Banu Turhan, N. Yaşar· Düzce Tıp Fakültesi Dergisi· 0 citations
Atypical femoral fractures (AFF) are rare fractures with characteristic radiographic features, most commonly associated with long-term bisphosphonate use. Their occurrence in patients with osteogenesis imperfecta (OI), a hereditary bone disease leading to bone fragility, is not well understood. In this study, 138 adults with genetically confirmed classical OI were screened for AFF. Five patients with AFF were identified and compared to an age- and treatment-matched adult OI cohort without AFF (n = 23). Demographical parameters, biochemical markers, bone mineral density (DXA), bone microarchitecture (HR-pQCT), and radiographs were analyzed. In addition, antiresorptive therapy and the duration of treatment were determined and compared. In the screened OI cohort, AFF prevalence was 3.6%. No significant differences were observed between groups regarding age, weight, height, BMI, fracture history, bone mineral density, or antiresorptive therapy exposure and duration. HR-pQCT showed no significant microarchitectural differences, although a trend toward higher cortical thickness was noted in AFF patients. AFF are a rare complication in adults with classical OI and appear to be multifactorial in origin. Our findings suggest that AFF are not exclusively related to antiresorptive therapy but may be influenced by disease-specific factors, particularly the underlying collagen defect, femoral deformities and altered biomechanics. Individualized management strategies are essential, and further studies are needed to clarify underlying mechanisms and best treatment options.
Mikolaj Bartosik, O. Windels, F. Barvencik et al.· Calcified Tissue Internation...· 0 citations
The study indicates that lower BHI SDS values are associated with increased fracture risk in children with classical OI and indicates that BHI may represent a clinically useful complementary tool for fracture risk stratification in young children with OI, particularly where DXA is unavailable or technically limited, including infancy.
Ruggero Lanzafame, Alistair D. Calder, B. Crowe et al.· Journal of Clinical Endocrin...· 0 citations
The findings suggest that the clinical role of TBS in the assessment of pediatric bone health remains to be established, and that larger prospective studies are needed to clarify the clinical value of TBS for fracture risk assessment in pediatric autoimmune gastrointestinal diseases.
Anna Łupińska, Sara Aszkiełowicz, Arkadiusz Zygmunt et al.· Nutrients· 0 citations
Osteomalacia is a generalized bone disorder characterized by defective bone mineralization. Definitive etiological diagnoses of osteomalacia remain challenging and are not fully standardized. We aim to describe clinical, biochemical, and radiographic features, elucidate the utility of various diagnosis methods, and propose a diagnostic strategy. A retrospective study involving 33 patients with osteomalacia over a 15-year period at our Rheumatology Department. The mean age was 50.6 years (range: 17-87 years), with a female predominance (sex-ratio=0.18). Clinical signs included bone pain (87.8%), gait disturbance (63.6%), motor deficit (54.5%), clinically apparent bone deformity (21.2%), fragility fracture (24.2%), and muscle pain (42.2%). Radiologically, diffuse bone demineralization was observed in 91% of patients. Other signs included Looser Milkman streaks (60.6%), bone deformities (39.5%), and bone fractures (55%). Low bone mineral density was observed in 85% of tested patients while 60% of them had densitometric osteoporosis. Main biochemical disorders included increased alkaline phosphatase levels (85%), hypocalcemia (88%), and hypophosphatemia (61%). Parathyroid hormone levels were elevated in 82% of cases, 25-hydroxyvitamin D level was reduced in all cases. All patients in our study fulfilled both the McKenna and the Adrar indexes for osteomalacia diagnosis. Both diagnostic indexes were significantly and positively correlated (r=0.56, p=0.01). Vitamin D-related osteomalacia was the predominant etiology, with vitamin D malabsorption observed in nine patients, seven of whom had celiac disease. Chronic kidney failure was observed in five cases. Osteomalacia was associated with renal phosphate leak in four cases. The presentation and etiologies of osteomalacia are diverse. Diagnosis relies on clinical, biochemical, and radiological findings and can be aided by diagnostic indexes such as McKenna's and Adrar's. Bone biopsy should be reserved for cases where the diagnosis is doubtful.
R. Tekaya, L. Rouached, Siwar Ben Dhia et al.· Egyptian Rheumatology and Re...· 0 citations
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