Apert Syndrome : A Descriptive Analysis of Selected Computed Tomographic Images of the Craniofacial Complex

Abstract

The purpose of this study was to demonstrate how selected computed tomographic images of the craniofacial complex may be used in a descriptive evaluation of cranial dysmorphology in living subjects with Apert syndrome. Computed tomographic images using coronal sections through the optic disc, planum sphenoidale, and axial sections through petrous ridges, pterygopalatine fossa, and midorbital level from two Apert syndrome and two non-syndrome controls were evaluated. Reference lines were established using actual and constructed landmarks. The results were tabulated for all four subjects. The two Apert subjects (in contrast to the non-syndrome subjects) demonstrated the following:

a) orbital proptosis with a reduced bony orbital depth and elongation of the orbits in a superior direction with an altered vertical orbital axis b) increased lateral orbital wall angle c) alteration of the anterior cranial base with depression of the ethmoid complex d) midface regression

Interestingly, ocular hypertelorism, which has been reported to be a feature of Apert syndrome, could not be confirmed by use of these CT scans. The findings obtained from this study are consistent with the published characteristics of Apert syndrome. In conclusion, this study demonstrates the utility of computed tomographic images in the evaluation of craniofacial dysmorphology.