Al Kaissi Ali, Ben Chehida Farid, Ganger Rudolf, Klaushofer Klaus, Grill Franz
Ludwig Boltzmann Institute of Osteology, The Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Heinrich Collin Str. 30 A, 1140, Vienna, Austria,
Eur Spine J. 2015 Mar;24(3):594-9. doi: 10.1007/s00586-014-3204-3. Epub 2014 Feb 7.
Goldenhar syndrome consists of a combination of unilateral auricular appendages, auricular fistulas, and ocular epibulbar dermoids combined with a unilateral underdevelopment of the craniofacial structures and vertebral abnormalities. We aimed to elicit the underlying spine pathology in a group of patients via tomographic assessment.
Hemifacial microsomia, cranial asymmetry, multiple ear tags, skin tags around the mouth and microtia were the most prominent facial features encountered in six patients with Goldenhar syndrome. Torticollis and cervico-thoracic scoliosis were the major deformities encountered in all patients. Thoraco-lumbar scoliosis and kyphoscoliosis were of lesser occurrence. Tomographic studies have been applied to all patients to delineate the underlying pathology.
Diverse spectrum of distinctive spine anomalies has been identified. Malsegmentation of the skull base associated with diffuse fusion with the upper cervical vertebrae was the most common spine pathology. Bilateral failure of segmentation, unilateral unsegmented bar and failure of vertebral formation were of lesser occurrence. Strikingly, we observed that the side of the hemifacial microsomia is strongly correlated with that of the craniocervical and the cervical vertebral abnormalities.
The importance of this paper is threefold; first, little information is available in the literature regarding the magnitude and the diversity of spine pathology in patients with Goldenhar syndrome. Second, is to alert spine specialists that conventional radiographic assessment of the craniocervical area is an insufficient modality to assess children with syndromic associations. Third, a rotation and flexion deformity of the neck associated with facial asymmetry and/or plagiocephaly should be considered as a syndromic entity rather than a simple physiological deformation.
Goldenhar综合征由单侧耳廓附件、耳瘘、眼球表面皮样囊肿，合并颅面结构单侧发育不全及脊柱异常组成。我们旨在通过断层扫描评估一组患者潜在的脊柱病变情况。
6例Goldenhar综合征患者最突出的面部特征为半侧颜面短小、颅骨不对称、多个耳部附器、口周皮肤赘生物及小耳畸形。所有患者均有斜颈和颈胸段脊柱侧弯等主要畸形。胸腰段脊柱侧弯和脊柱后凸畸形发生率较低。对所有患者均进行了断层扫描研究以明确潜在病变情况。
已识别出多种独特的脊柱异常。颅底节段异常合并与上位颈椎广泛融合是最常见的脊柱病变。双侧节段形成障碍、单侧未分节条带及椎体形成障碍发生率较低。令人惊讶的是，我们观察到半侧颜面短小的一侧与颅颈及颈椎异常的一侧密切相关。
本文的重要性体现在三个方面；第一，关于Goldenhar综合征患者脊柱病变的严重程度和多样性，文献中提供的信息较少。第二，提醒脊柱专科医生，对颅颈区域进行传统的放射学评估不足以评估患有综合征关联的儿童。第三，与面部不对称和/或扁头畸形相关的颈部旋转和屈曲畸形应被视为一种综合征实体，而非单纯的生理性变形。
