Hemifacial microsomia: skeletal abnormalities evaluation using CBCT (case report)

Authors

  • Sergey Lvovich Kabak
  • Nina Alexandrovna Savrasova
  • Valentina Vladimirovna Zatochnaya
  • Yuliya Michailovna Melnichenko

DOI:

https://doi.org/10.3941/jrcr.v13i11.3687

Keywords:

Hemifacial microsomia, Goldenhar (Goldenhar-Gorlin) syndrome, craniofacial microsomia, oculo-auriculo-vertebral dysplasia, first and second branchial arch syndrome, lateral facial dysplasia, unilateral oto-mandibular dysostosis, vertebral anomalies

Abstract

The article presents a case report and literature review of hemifacial microsomia with cervical vertebral anomalies. Unilateral hypoplasia of the mandible, congenital anomalies of the external ear and cervical spine pathology identified in this case are common major signs/symptoms of Goldenhar (Goldenhar-Gorlin) syndrome. Complete fusion of bodies and spinous processes of the second and third cervical vertebrae as well as atlantooccipital assimilation and anterior cleft of the atlas were also found. All abnormalities were accidentally identified and not accompanied by clinical symptoms.

Author Biographies

Sergey Lvovich Kabak

Head of Human Morphology Department, Professor

Nina Alexandrovna Savrasova

Radiology & Radiotherapy Department, Associate Professor

Valentina Vladimirovna Zatochnaya

Human Morphology Department, Senior Lecturer

Yuliya Michailovna Melnichenko

Human Morphology Department, Associate Professor

Published

2019-11-22

Issue

Section

Neuroradiology