Article
Craniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP.
Bone - 1 Nov 2022
Marulanda Juliana, Ludwig Karissa, Glorieux Francis, Lee Brendan, Sutton V Reid, Retrouvey Jean-Marc, Rauch Frank
Abstract excerpt
Mutations in CRTAP lead to an extremely rare form of recessive osteogenesis imperfecta (OI). CRTAP deficient mice have a brachycephalic skull, fusion of facial bones, midface retrusion and class III dental malocclusion, but in humans, the craniofacial and dental phenotype has not been reported in detail. Here, we describe craniofacial and dental findings in two 11-year-old girls with biallelic CRTAP mutations....
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