Craniofacial morphology in adults with osteogenesis imperfecta – a cross‐sectional study

Objectives The aim of this study was to compare the craniofacial and neurocranial morphology of adults with osteogenesis imperfecta (OI) with controls and to elucidate whether osseous origin impacts on morphological deviations in OI. Materials and Methods Fifty-four adults (mean age 45.8) with OI type I, 14 adults (mean age 42.6) with OI types III/IV and 49 adult controls (mean age 41.0) were included. All participants had European ethnicity. Cranial morphology was assessed by 2D-cephalometry. Comparison between groups was made by multiple regression analyses. Results Comparison between OI groups and controls: (1) Dimension of the maxilla and mandible, respectively was reduced (P < .01), and in relation to the posterior cranial base, the maxilla was retro-positioned (P < .001), and the mandible was prognathic (P < .001). (2) The anterior face height was reduced (P < .04), and in OI types III/IV only, the maxilla was posteriorly inclined (P < .001). (3) Anterior cranial base (P < .001) and the dimension sella-frontale (P < .02) were short. (4) The sagittal dimension of the posterior cranial fossa was increased (P < .01), and the vertical dimension was reduced (P < .01). Conclusions Adults with OI had a hypoplastic, retro-positioned and posteriorly inclined maxilla, a hypoplastic and forward-positioned mandible, and a reduced anterior face height. Deviations were seen in morphology of the posterior cranial fossa. The impact of OI on cranial morphology was generally more evident in OI type III/IV than in OI type I. OI impacts on osseous cranial structures irrespective of bony origin being intramembranous or endochondral.