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Absent thoracic vertebra

MedGen UID:
1383976
•Concept ID:
C4477021
•
Congenital Abnormality
HPO: HP:0031176

Definition

A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine. [from HPO]

Professional guidelines

PubMed

Prenatal diagnosis of a case with anencephaly-omphalocele-unilateral absent radial ray.
Ceylaner S, Ceylaner G, Altun M, Coşkun A, Danisman N
Genet Couns 2009;20(2):189-93. PMID: 19650417
Late outcome of nonoperative management of thoracolumbar vertebral wedge fractures.
Folman Y, Gepstein R
J Orthop Trauma 2003 Mar;17(3):190-2. doi: 10.1097/00005131-200303000-00006. PMID: 12621259

Recent clinical studies

Etiology

Efficacy and safety for combination of t-EMG with O-arm assisted pedicle screw placement in neurofibromatosis type I scoliosis surgery.
Shao X, Huang Z, Yang J, Deng Y, Yang J, Sui W
J Orthop Surg Res 2021 Dec 20;16(1):731. doi: 10.1186/s13018-021-02882-9. PMID: 34930400Free PMC Article
Localization of the trunk muscles using musculoskeletal ultrasound guidance for pedicle screw stimulation during spine surgery.
Yang TF, Chiu JW, Feng CK, Hsieh YC, Yang CY, Wang JC, Liao KK
J Clin Neurosci 2017 Sep;43:151-156. Epub 2017 Jun 7 doi: 10.1016/j.jocn.2017.05.037. PMID: 28601574
Mini-thoracotomy or thoracoscopic treatment for medially located thoracic herniated disc?
Bartels RH, Peul WC
Spine (Phila Pa 1976) 2007 Sep 15;32(20):E581-4. doi: 10.1097/BRS.0b013e31814b84e1. PMID: 17873799
Midodrine improves ejaculation in spinal cord injured men.
Soler JM, Previnaire JG, Plante P, Denys P, Chartier-Kastler E
J Urol 2007 Nov;178(5):2082-6. Epub 2007 Sep 17 doi: 10.1016/j.juro.2007.07.047. PMID: 17869290
Abductor hallucis for monitoring lower-limb recovery after spinal cord injury in man.
Calancie B, Molano MR, Broton JG
Spinal Cord 2004 Oct;42(10):573-80. doi: 10.1038/sj.sc.3101640. PMID: 15237285

Diagnosis

Efficacy and safety for combination of t-EMG with O-arm assisted pedicle screw placement in neurofibromatosis type I scoliosis surgery.
Shao X, Huang Z, Yang J, Deng Y, Yang J, Sui W
J Orthop Surg Res 2021 Dec 20;16(1):731. doi: 10.1186/s13018-021-02882-9. PMID: 34930400Free PMC Article
An Unusual Presentation of Spinal Giant Cell Glioblastoma in a 21-Year-Old Female.
Delgado BJ, Moosavi L, Rangel E, Stull W, Polineni RD, Chen J, Cobos E
J Investig Med High Impact Case Rep 2019 Jan-Dec;7:2324709619868255. doi: 10.1177/2324709619868255. PMID: 31394931Free PMC Article
Cervicothoracic cystic dysraphism.
Valeur NS, Iyer RS, Ishak GE
Pediatr Radiol 2016 Sep;46(10):1471-81. Epub 2016 May 5 doi: 10.1007/s00247-016-3632-9. PMID: 27147079
A 7-year-old girl with hypertrophic cardiomyopathy and progressive scoliosis.
Dhamija R, Kirmani S
Semin Pediatr Neurol 2014 Jun;21(2):67-71. Epub 2014 Apr 3 doi: 10.1016/j.spen.2014.04.003. PMID: 25149925
Abductor hallucis for monitoring lower-limb recovery after spinal cord injury in man.
Calancie B, Molano MR, Broton JG
Spinal Cord 2004 Oct;42(10):573-80. doi: 10.1038/sj.sc.3101640. PMID: 15237285

Therapy

Efficacy and safety for combination of t-EMG with O-arm assisted pedicle screw placement in neurofibromatosis type I scoliosis surgery.
Shao X, Huang Z, Yang J, Deng Y, Yang J, Sui W
J Orthop Surg Res 2021 Dec 20;16(1):731. doi: 10.1186/s13018-021-02882-9. PMID: 34930400Free PMC Article
Bilateral optic disc edema as a presentation of an obstructing spinal plasmacytoma.
Grixti A, Bonello M, Silver N, Noonan C, Ziahosseini K
Eur J Ophthalmol 2016 Feb 15;26(2):e32-4. doi: 10.5301/ejo.5000701. PMID: 26541112
Mini-thoracotomy or thoracoscopic treatment for medially located thoracic herniated disc?
Bartels RH, Peul WC
Spine (Phila Pa 1976) 2007 Sep 15;32(20):E581-4. doi: 10.1097/BRS.0b013e31814b84e1. PMID: 17873799
Midodrine improves ejaculation in spinal cord injured men.
Soler JM, Previnaire JG, Plante P, Denys P, Chartier-Kastler E
J Urol 2007 Nov;178(5):2082-6. Epub 2007 Sep 17 doi: 10.1016/j.juro.2007.07.047. PMID: 17869290
Paravertebral blockade for minor breast surgery.
Terheggen MA, Wille F, Borel Rinkes IH, Ionescu TI, Knape JT
Anesth Analg 2002 Feb;94(2):355-9, table of contents. doi: 10.1097/00000539-200202000-00023. PMID: 11812698

Prognosis

An Unusual Presentation of Spinal Giant Cell Glioblastoma in a 21-Year-Old Female.
Delgado BJ, Moosavi L, Rangel E, Stull W, Polineni RD, Chen J, Cobos E
J Investig Med High Impact Case Rep 2019 Jan-Dec;7:2324709619868255. doi: 10.1177/2324709619868255. PMID: 31394931Free PMC Article
Cervicothoracic cystic dysraphism.
Valeur NS, Iyer RS, Ishak GE
Pediatr Radiol 2016 Sep;46(10):1471-81. Epub 2016 May 5 doi: 10.1007/s00247-016-3632-9. PMID: 27147079
Bilateral optic disc edema as a presentation of an obstructing spinal plasmacytoma.
Grixti A, Bonello M, Silver N, Noonan C, Ziahosseini K
Eur J Ophthalmol 2016 Feb 15;26(2):e32-4. doi: 10.5301/ejo.5000701. PMID: 26541112
Midodrine improves ejaculation in spinal cord injured men.
Soler JM, Previnaire JG, Plante P, Denys P, Chartier-Kastler E
J Urol 2007 Nov;178(5):2082-6. Epub 2007 Sep 17 doi: 10.1016/j.juro.2007.07.047. PMID: 17869290
An unusual case of penetrating injury to the spine resulting in cauda equina syndrome: case presentation and a review of the literature.
Lee KH, Lin JS, Pallatroni HF, Ball PA
Spine (Phila Pa 1976) 2007 Apr 20;32(9):E290-3. doi: 10.1097/01.brs.0000260986.70179.8e. PMID: 17450061

Clinical prediction guides

Recurrent lumbar spinal intradural enterogenous cyst: a case report.
Arslan E, Cakir E, Kuzeyli K, Guvercin AR, Gazioglu G, Arslan EA, Reis A
Turk Neurosurg 2010 Jul;20(3):402-5. doi: 10.5137/1019-5149.JTN.1992-09.3. PMID: 20669116
Cerebral salt wasting in a child with cervicothoracic hematoma.
Simsek E, Dilli D, Yasitli U, Ozlem N, Bostanci I, Dallar Y
J Pediatr Endocrinol Metab 2008 Jul;21(7):695-700. doi: 10.1515/jpem.2008.21.7.695. PMID: 18780605
Repeat vertebroplasty for unrelieved pain at previously treated vertebral levels with osteoporotic vertebral compression fractures.
He SC, Teng GJ, Deng G, Fang W, Guo JH, Zhu GY, Li GZ
Spine (Phila Pa 1976) 2008 Mar 15;33(6):640-7. doi: 10.1097/BRS.0b013e318166955f. PMID: 18344858
Paravertebral blockade for minor breast surgery.
Terheggen MA, Wille F, Borel Rinkes IH, Ionescu TI, Knape JT
Anesth Analg 2002 Feb;94(2):355-9, table of contents. doi: 10.1097/00000539-200202000-00023. PMID: 11812698
Quantitative computed tomography for prediction of vertebral fracture risk.
Cann CE, Genant HK, Kolb FO, Ettinger B
Bone 1985;6(1):1-7. doi: 10.1016/8756-3282(85)90399-0. PMID: 3994856

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