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Topic:

​

Issue:

​

Category:

Congenital

Title:

Fracture Patterns and Mortality in Osteopetrosis: A 7-year Retrospective Analysis from Türkiye’s National Registry

Author:

Bingöl, Olgun MD; Yaşar, Niyazi Erdem MD; Özdemir, Güzelali MD; Bekmez, Şenol MD; Söylemez, Mehmet Salih MD; Dumlupinar, Ebru MSc; Ayvali, Mustafa Okan BSc; Ata, Naim MD; Ülgü, M. Mahir MD; Birinci, Şuayip MD; Bingöl, İzzet MD

Journal:

Journal of Pediatric Orthopaedics

Date:

January 2024

Reference:

44(1): p e69-e72, DOI: 10.1097/BPO.0000000000002518

Level Of Evidence:

II

# of Patients:

476

Study Type:

Retrospective cross-sectional analysis

Location:

Türkiye

Summary:

This study examined the demographics, fracture patterns, mortality rates, and treatment methods of patients with osteopetrosis using data from the national registry.

Methods:

Retrospective review of patients with ICD-10 code Q78.2. Data on fracture history, treatments (surgical and conservative), and mortality were collected.

Exclusions:

Patients with other significant medical conditions or those with incomplete medical records were excluded.

Results:

The mean age at diagnosis was 5.79 ± 5.43 years. 101 patients died, with younger age at diagnosis correlated with higher mortality (P<0.001). 192 fractures were seen, most commonly in the femur. The combination of vitamin D and calcium was associated with a lower fracture incidence (P<0.001). Incidence: 1 in 416,000; Prevalence: 0.00199% in the under-18 population.

Conclusions:

Younger age at diagnosis is linked to increased mortality. Vitamin D and calcium supplementation reduces the fracture risk in osteopetrosis patients.

Relevance:

Limitations:

Perspective:

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