Spinal anomalies in Goldenhar syndrome

Goldenhar syndrome consists of the triad of craniofacial microsomia, occular dermoid cysts, and spinal anomalies. The exact nature of the spinal anomalies remains poorly defined in the existing craniofacial literature, possibly due to these anomalies being managed by orthopedic surgeons rather than by craniofacial surgeons. The aim of this study was to clarify the nature and extent of these spinal anomalies.

Review of case notes of patients who had their diagnosis confirmed following review by a clinical geneticist and in conjunction with radiographs (supplemented by three-dimensional computed tomographic [CT] scans where available).

Seven patients fulfilled the entry criteria and had material available for study. A wide range of anomalies was present, including butterfly vertebrae; hemivertebrae, which produced secondary scoliosis; kyphosis; and rib anomalies. Anomalies occurred at all levels within the spine.

The possibility of spinal anomalies at all levels of the spine should be considered by those treating cases of Goldenhar syndrome, because these anomalies cannot be predicted from the severity of the facial malformation.