CLINICAL AND RADIOLOGICAL MONITORING OF FACIO-AURICULO-VERTEBRAL

SPECTRUM OF ANOMALIES (GOLDENHAR SYNDROME)

 

Khomutova E.Yu., Savchenko R.K., Khudorozhkov Yu.G., Khomutov A.D.

 

Omsk State Medical University. Omsk, Russia.

To present the experience of clinical and radiological monitoring at the stages of planning the volume and sequence of contour plastic surgery using 3D-CT modeling, as well as at the postoperative stage (with evaluation of the results), in a patient with a facio-auriculo-vertebral spectrum of anomalies (Goldenhar syndrome), to guarantee the best physiological and aesthetic results.

Material and methods. The article presents a clinical observation of a 20-year-old patient with Goldenhar syndrome, with complaints of asymmetry and unaesthetic appearance of the face, periodic headaches and neck pain, moderate difficulties with chewing solid food. The anamnesis includes a number of surgeries for congenital heart defect, microtia and removal of ear appendages on the right. Orthodontic and osteopathic treatment was performed with minimal functional and aesthetic improvement.

Results. CBCT, MSCT, TRG (with cephalometric analysis), and MRI of the facial skull, cervical spine, and TMJ were performed dynamically, based on current clinical manifestations, preoperatively (with 3D modeling of the volume, dimensions, and a step-by-step plan for creating a custom implant model) for contouring the mandibular defect (hypoplasia), and postoperatively to evaluate initial results. Following a general clinical examination of the patient, we planned the facial contouring procedure using 3D reconstruction data from MSCT. This allowed us to clearly determine the size and volume of the right mandibular deformity, comparing it with the contralateral side, to achieve facial symmetry, taking into account the virtual layer-by-layer restoration of the pathological defect.

Discussion. The surgery was planned in stages, taking into account data obtained from MSCT and CBCT of the facial skull. Additive manufacturing was used for 3D printing of a template and the final implant model. The usage of additive manufacturing technologies allowed the production of an implant adapted to the patient's anatomical features, filling the defect on the right side of the face. The custom-made implant required no modifications during surgery, guaranteed a favorable reconstructive process, and predicted a stable aesthetic outcome. MSCT of the TMJ (completely covering the head and cervical spine), with the option of additional work in an automatic cephalometric program, allowed for the evaluation of the initial surgical results and the planning of orthodontic and osteopathic treatment in the postoperative period, which will ensure a lasting and satisfactory aesthetic outcome.

Conclusion. The usage of clinical and radiological monitoring at all stages of the care and treatment of patients with a rare condition such as facio-auriculo-vertebral spectrum anomalies not only provides exceptional experience in choosing the right treatment strategy, but also guarantees improvements in the patient's condition and appearance (improving mood and confidence in everyday life and social activities). A personalized approach to patients with rare diseases, including interdisciplinary medical research of solutions for medical care for these patients, contributes to the accumulation of valuable research experience.

 

Keywords: facio-auriculo-vertebral spectrum anomalies, Goldenhar syndrome, lower jaw, volumetric modeling, stereolithography, multidetector computed tomography, MSCT, CBCT.

 

Corresponding author: Khomutova E.Yu., e-mail: Этот e-mail адрес защищен от спам-ботов, для его просмотра у Вас должен быть включен Javascript

 

For citation: Khomutova E.Yu., Savchenko R.K., Khudorozhkov Yu.G., Khomutov A.D. Clinical and radiological monitoring of facio-auriculo-vertebral spectrum of anomalies (Goldenhar syndrome). REJR 2026; 16(1):223-236. DOI: 10.21569/2222-7415-2026-16-1-223-236.

Received: 23.09.25 Accepted:            14.10.25