Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature

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Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature. / Hansen-Algenstaedt, Nils; Liem, Melanie; Khalifah, Salah; Giese, Alf; Gutenberg, Angelika.

In: JAAOS GLOB RES REV, Vol. 3, No. 7, e805, 07.2019.

Research output: SCORING: Contribution to journalSCORING: Review articleResearch

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@article{a5df229e598b4c12bdb3b3a3d3ec1017,
title = "Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature",
abstract = "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.",
author = "Nils Hansen-Algenstaedt and Melanie Liem and Salah Khalifah and Alf Giese and Angelika Gutenberg",
note = "Copyright {\textcopyright} 2019 The Authors. Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Orthopaedic Surgeons.",
year = "2019",
month = jul,
doi = "10.5435/JAAOSGlobal-D-17-00085",
language = "English",
volume = "3",
journal = "JAAOS GLOB RES REV",
issn = "2474-7661",
publisher = "Wolters Kluwer Health",
number = "7",

}

RIS

TY - JOUR

T1 - Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature

AU - Hansen-Algenstaedt, Nils

AU - Liem, Melanie

AU - Khalifah, Salah

AU - Giese, Alf

AU - Gutenberg, Angelika

N1 - Copyright © 2019 The Authors. Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Orthopaedic Surgeons.

PY - 2019/7

Y1 - 2019/7

N2 - 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.

AB - 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.

U2 - 10.5435/JAAOSGlobal-D-17-00085

DO - 10.5435/JAAOSGlobal-D-17-00085

M3 - SCORING: Review article

C2 - 31579884

VL - 3

JO - JAAOS GLOB RES REV

JF - JAAOS GLOB RES REV

SN - 2474-7661

IS - 7

M1 - e805

ER -