Kabak Sergey Lvovich, Savrasova Nina Alexandrovna, Zatochnaya Valentina Vladimirovna, Melnichenko Yuliya Michailovna
Department of Human Morphology, Belarusian State Medical University, Minsk, Belarus.
Department of Radiology & Radiotherapy, Belarusian State Medical University, Minsk, Belarus.
J Radiol Case Rep. 2019 Nov 30;13(11):1-9. doi: 10.3941/jrcr.v13i11.3687. eCollection 2019 Nov.
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.
本文呈现了一例伴有颈椎异常的半侧颜面短小畸形的病例报告及文献综述。该病例中所发现的下颌骨单侧发育不全、外耳先天性异常以及颈椎病变是戈尔登哈(戈尔登哈-戈林)综合征常见的主要体征/症状。还发现第二和第三颈椎椎体及棘突完全融合,以及寰枕融合和寰椎前裂。所有异常均为偶然发现,且未伴有临床症状。