Role of 3D-CT for orthodontic and ENT evaluation in Goldenhar syndrome

Goldenhar syndrome is a congenital condition that includes anomalies of the derivatives of the first and second brachial arches, vertebral defects and ocular abnormalities. It is also known as oculo-auriculo-vertebrale syndrome (OAVS), hemifacial microsomia, or first or second brachial arch syndrome. It was first described by Van Duyse in 1882 and better studied by M. Goldenhar in 1952. Its treatment requires a multidisciplinary approach. Herein, we describe the value of 3D-CT evaluation in a patient with Goldenhar syndrome, with particular regard to planning diagnostic and therapeutic approach. A 7-year-old boy with Goldenhar syndrome with definite post-natal genetic diagnosis was referred to our Department of Radiology for neuroimaging of the temporal bone. By 3D-CT evaluation of this young patient we observed the asymmetry of the condyles with the right one dysmorphic, short and wide; the auricle of the right ear was replaced by a dysmorphic rough; the right middle ear had a hypoplastic tympanic cavity and the internal auditory canal of right ear was atresic. In our experience, 3D-CT is a powerful diagnostic instrument and offers many advantages: volumetric reproduction of cranium and soft tissues, no overlap of anatomic parts that limits the visibility of various structures, high precision and assurance of images, and a constant and easily reproducible reference system. In our case, 3D-CT offered a very complete evaluation of all malformations of mandibular and temporal bone that characterize this syndrome and representing an important step for ENT and orthodontic therapeutic approaches.