Oral rehabilitation of a pediatric patient with osteogenesis imperfecta type VII: A case report

Busra Tekin; Rusen Demir; Ebru Akleyin

doi:10.5281/zenodo.10884003

Authors

Busra Tekin Department of Pediatric Dentistry, Dicle University, Faculty of Dentistry, Diyarbakir, Turkey https://orcid.org/0009-0006-5619-1987
Rusen Demir Department of Pediatric Dentistry, Dicle University, Faculty of Dentistry, Diyarbakir, Turkey https://orcid.org/0009-0001-3551-8315
Ebru Akleyin Dicle University, Faculty of Dentistry, Department of Pediatric Dentistry, Diyarbakır, Turkey https://orcid.org/0000-0003-4302-6561

DOI:

https://doi.org/10.5281/zenodo.10884003

Keywords:

Oral rehabilitation, Osteogenesis imperfecta, Pediatric dentistry

Abstract

Osteogenesis imperfecta (OI), also known as glass bone disease, is associated with mutations in COL1A1 and COL1A2, which encode collagen type I chains, and is inherited in an autosomal dominant manner. However, as the molecular structure of the disease progresses, new autosomal recessive types have been identified. Type VII has recently been defined as a type of OI caused by the mutation of a fatal recessively inherited cartilage-associated protein (CRTAP) that causes moderate to severe bone deformities. Type VII OI is characterized by fractures at birth, blue sclera, early deformity of the lower extremities, coxa vara, and osteopenia. There is no known cure for this disease. There are few definitions of craniofacial and oral manifestations of type VII OI available in the literature. The aim of this study was to improve the quality of life of a 6-year-old pediatric patient with primary dentition diagnosed with OI type VII by providing oral rehabilitation, and to offer qualified treatment alternatives to such patients.

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