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Article

Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants.

Orthodontics & craniofacial research - 1 Apr 2024

Marulanda Juliana, Retrouvey Jean-Marc, Lee Brendan, Sutton V Reid, Rauch Frank, Briner Michelle

Abstract excerpt

INTRODUCTION: Cranio-cervical anomalies are significant complications of osteogenesis imperfecta (OI), a rare bone fragility disorder that is usually caused by mutations in collagen type I encoding genes. OBJECTIVE: To assess cranio-cervical anomalies and associated clinical findings in patients with moderate-to-severe OI using 3D cone beam computed tomography (CBCT) scans. METHODS: Cross-sectional analysis of...

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PMID: 37642979
DOI: 10.1111/ocr.12707
PMCID: PMC11198608

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