Open AccessOculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature
Author(s) -
Nils Hansen-Algenstaedt,
Melanie Liem,
Salah Khalifah,
Alf Giese,
Angelika Gutenberg
Publication year - 2019
Publication title -
journal of the american academy of orthopaedic surgeons. global research and reviews
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.358
H-Index - 2
ISSN - 2474-7661
DOI - 10.5435/jaaosglobal-d-17-00085
Subject(s) - medicine , craniofacial , context (archaeology) , occult , spinal cord , goldenhar syndrome , atlantoaxial instability , surgery , presentation (obstetrics) , anatomy , radiology , cervical spine , pathology , paleontology , alternative medicine , psychiatry , biology
Oculo-auriculo-vertebral spectrum (OAVS) is an uncommon congenital disorder of abnormal development of the first and second pharyngeal arches. This spectrum is characterized by craniofacial microsomia, epibulbar dermoids, ear abnormalities, renal and cardiac defects, and a wide range of vertebral segmentation and formation disorders. Frequently, the cervicothoracic spine is involved. Only recently, the morbidity attributed to the spinal abnormalities has gained attention. Strategy and timing of spine surgery has become increasingly important in patients with OAVS. Here, we report a case of OAVS with characteristic vertebral cervical and thoracic involvement and its sequelae requiring multiple spinal procedures, further complexed by an unprecedented occult tethered cord syndrome, which was successfully treated by surgical detethering. In this context, the recent literature on spinal anomalies is reviewed.