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Mullerian-Renal-Cervical Spine Syndrome

MedGen UID:
1393325
•Concept ID:
C4330718
•
Disease or Syndrome

Definition

A condition characterized by Mullerian duct aplasia, unilateral renal dysplasia, and cervicothoracic anomalies. Other associated findings may include skeletal abnormalities (scoliosis, vertebral anomalies, rib malformations, spina bifida), and face and limb malformations (brachymesophalangy, ectrodactyly). Heart malformations may include valvular pulmonary stenosis, aortopulmonary window, atrial septal defect, and/or tetralogy of Fallot. Putative candidate genes such as HNF1B (17q12), LHX1 (17q12), SHOX (Xp22.33 and Yp11.32), TBX6 ( 16p11.2), and ITIH5 (10p14) may be implicated. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMullerian-Renal-Cervical Spine Syndrome

Professional guidelines

PubMed

Diagnosis and Management of Lumbar Spinal Stenosis: A Review.
Katz JN, Zimmerman ZE, Mass H, Makhni MC
JAMA 2022 May 3;327(17):1688-1699. doi: 10.1001/jama.2022.5921. PMID: 35503342
Piriformis Syndrome: A Narrative Review of the Anatomy, Diagnosis, and Treatment.
Probst D, Stout A, Hunt D
PM R 2019 Aug;11 Suppl 1:S54-S63. Epub 2019 Jul 22 doi: 10.1002/pmrj.12189. PMID: 31102324
Clinical practice guidelines for the management of non-specific low back pain in primary care: an updated overview.
Oliveira CB, Maher CG, Pinto RZ, Traeger AC, Lin CC, Chenot JF, van Tulder M, Koes BW
Eur Spine J 2018 Nov;27(11):2791-2803. Epub 2018 Jul 3 doi: 10.1007/s00586-018-5673-2. PMID: 29971708

Recent clinical studies

Etiology

Comparative analysis and differentiation between SAPHO syndrome and spondyloarthropathies using whole-spine MRI.
Zhang LH, Han SB, Song L, Gao S, Zhao Q, Deng XL, Yuan HS
Clin Radiol 2021 May;76(5):394.e9-394.e14. Epub 2021 Jan 12 doi: 10.1016/j.crad.2020.12.005. PMID: 33451718
Relationship Between Shoulder Impingement Syndrome and Thoracic Posture.
Hunter DJ, Rivett DA, McKeirnan S, Smith L, Snodgrass SJ
Phys Ther 2020 Apr 17;100(4):677-686. doi: 10.1093/ptj/pzz182. PMID: 31825488
Iatrogenic Flatback and Flatback Syndrome: Evaluation, Management, and Prevention.
Boody BS, Rosenthal BD, Jenkins TJ, Patel AA, Savage JW, Hsu WK
Clin Spine Surg 2017 May;30(4):142-149. doi: 10.1097/BSD.0000000000000522. PMID: 28266956
Fusionless scoliosis surgery.
Cunningham ME, Frelinghuysen PH, Roh JS, Boachie-Adjei O, Green DW
Curr Opin Pediatr 2005 Feb;17(1):48-53. doi: 10.1097/01.mop.0000149603.33508.8d. PMID: 15659963
Spinal cord syndromes.
Wagner R, Jagoda A
Emerg Med Clin North Am 1997 Aug;15(3):699-711. doi: 10.1016/s0733-8627(05)70326-6. PMID: 9255141

Diagnosis

Pediatric Spine Tumors and Dysontogenetic Masses.
Ho ML
Neuroimaging Clin N Am 2023 Aug;33(3):375-388. Epub 2023 Jun 1 doi: 10.1016/j.nic.2023.04.002. PMID: 37356857
The Natural History of Early-onset Scoliosis.
Karol LA
J Pediatr Orthop 2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S38-S43. doi: 10.1097/BPO.0000000000001351. PMID: 31169646
Straight Back Syndrome.
Wright CD
Thorac Surg Clin 2017 May;27(2):133-137. doi: 10.1016/j.thorsurg.2017.01.006. PMID: 28363367
Postural deformities in Parkinson's disease.
Doherty KM, van de Warrenburg BP, Peralta MC, Silveira-Moriyama L, Azulay JP, Gershanik OS, Bloem BR
Lancet Neurol 2011 Jun;10(6):538-49. Epub 2011 Apr 22 doi: 10.1016/S1474-4422(11)70067-9. PMID: 21514890
Hip-spine syndrome.
Offierski CM, MacNab I
Spine (Phila Pa 1976) 1983 Apr;8(3):316-21. doi: 10.1097/00007632-198304000-00014. PMID: 6623198

Therapy

Epidural Interventions in the Management of Chronic Spinal Pain: American Society of Interventional Pain Physicians (ASIPP) Comprehensive Evidence-Based Guidelines.
Manchikanti L, Knezevic NN, Navani A, Christo PJ, Limerick G, Calodney AK, Grider J, Harned ME, Cintron L, Gharibo CG, Shah S, Nampiaparampil DE, Candido KD, Soin A, Kaye AD, Kosanovic R, Magee TR, Beall DP, Atluri S, Gupta M, Helm Ii S, Wargo BW, Diwan S, Aydin SM, Boswell MV, Haney BW, Albers SL, Latchaw R, Abd-Elsayed A, Conn A, Hansen H, Simopoulos TT, Swicegood JR, Bryce DA, Singh V, Abdi S, Bakshi S, Buenaventura RM, Cabaret JA, Jameson J, Jha S, Kaye AM, Pasupuleti R, Rajput K, Sanapati MR, Sehgal N, Trescot AM, Racz GB, Gupta S, Sharma ML, Grami V, Parr AT, Knezevic E, Datta S, Patel KG, Tracy DH, Cordner HJ, Snook LT, Benyamin RM, Hirsch JA
Pain Physician 2021 Jan;24(S1):S27-S208. PMID: 33492918
Comprehensive corrective exercise program improves alignment, muscle activation and movement pattern of men with upper crossed syndrome: randomized controlled trial.
Seidi F, Bayattork M, Minoonejad H, Andersen LL, Page P
Sci Rep 2020 Nov 26;10(1):20688. doi: 10.1038/s41598-020-77571-4. PMID: 33244045Free PMC Article
Time is spine: a review of translational advances in spinal cord injury.
Badhiwala JH, Ahuja CS, Fehlings MG
J Neurosurg Spine 2018 Dec 20;30(1):1-18. doi: 10.3171/2018.9.SPINE18682. PMID: 30611186
Prevalence of Work-Related Musculoskeletal Disorders Among Surgeons and Interventionalists: A Systematic Review and Meta-analysis.
Epstein S, Sparer EH, Tran BN, Ruan QZ, Dennerlein JT, Singhal D, Lee BT
JAMA Surg 2018 Feb 21;153(2):e174947. doi: 10.1001/jamasurg.2017.4947. PMID: 29282463Free PMC Article
Pathogenesis, diagnosis, and treatment of lumbar zygapophysial (facet) joint pain.
Cohen SP, Raja SN
Anesthesiology 2007 Mar;106(3):591-614. doi: 10.1097/00000542-200703000-00024. PMID: 17325518

Prognosis

The Natural History of Early-onset Scoliosis.
Karol LA
J Pediatr Orthop 2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S38-S43. doi: 10.1097/BPO.0000000000001351. PMID: 31169646
Time is spine: a review of translational advances in spinal cord injury.
Badhiwala JH, Ahuja CS, Fehlings MG
J Neurosurg Spine 2018 Dec 20;30(1):1-18. doi: 10.3171/2018.9.SPINE18682. PMID: 30611186
Central nervous system and cervical spine abnormalities in Apert syndrome.
Breik O, Mahindu A, Moore MH, Molloy CJ, Santoreneos S, David DJ
Childs Nerv Syst 2016 May;32(5):833-8. Epub 2016 Feb 10 doi: 10.1007/s00381-016-3036-z. PMID: 26861132
Degenerative Cervical Myelopathy: Epidemiology, Genetics, and Pathogenesis.
Nouri A, Tetreault L, Singh A, Karadimas SK, Fehlings MG
Spine (Phila Pa 1976) 2015 Jun 15;40(12):E675-93. doi: 10.1097/BRS.0000000000000913. PMID: 25839387
Sacrococcygeal dysgenesis association.
Duncan PA, Shapiro LR, Klein RM
Am J Med Genet 1991 Nov 1;41(2):153-61. doi: 10.1002/ajmg.1320410203. PMID: 1785625

Clinical prediction guides

The Autism Spectrum: Behavioral, Psychiatric and Genetic Associations.
Genovese A, Butler MG
Genes (Basel) 2023 Mar 9;14(3) doi: 10.3390/genes14030677. PMID: 36980949Free PMC Article
Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review.
Menezes AH, Traynelis VC
Childs Nerv Syst 2022 Feb;38(2):361-377. Epub 2021 Nov 22 doi: 10.1007/s00381-021-05409-z. PMID: 34806157
Comprehensive corrective exercise program improves alignment, muscle activation and movement pattern of men with upper crossed syndrome: randomized controlled trial.
Seidi F, Bayattork M, Minoonejad H, Andersen LL, Page P
Sci Rep 2020 Nov 26;10(1):20688. doi: 10.1038/s41598-020-77571-4. PMID: 33244045Free PMC Article
Degenerative Cervical Myelopathy: Epidemiology, Genetics, and Pathogenesis.
Nouri A, Tetreault L, Singh A, Karadimas SK, Fehlings MG
Spine (Phila Pa 1976) 2015 Jun 15;40(12):E675-93. doi: 10.1097/BRS.0000000000000913. PMID: 25839387
A clinical overview of bone marrow edema.
Manara M, Varenna M
Reumatismo 2014 Jul 28;66(2):184-96. doi: 10.4081/reumatismo.2014.790. PMID: 25069499

Recent systematic reviews

Prevalence of Work-Related Musculoskeletal Disorders Among Surgeons and Interventionalists: A Systematic Review and Meta-analysis.
Epstein S, Sparer EH, Tran BN, Ruan QZ, Dennerlein JT, Singhal D, Lee BT
JAMA Surg 2018 Feb 21;153(2):e174947. doi: 10.1001/jamasurg.2017.4947. PMID: 29282463Free PMC Article
Cervical intradural disc herniation: A systematic review.
Guan Q, Xing F, Long Y, Xiang Z
J Clin Neurosci 2018 Feb;48:1-6. Epub 2017 Nov 20 doi: 10.1016/j.jocn.2017.10.024. PMID: 29162303
Postural disorders in mouth breathing children: a systematic review.
Neiva PD, Kirkwood RN, Mendes PL, Zabjek K, Becker HG, Mathur S
Braz J Phys Ther 2018 Jan-Feb;22(1):7-19. Epub 2017 Jul 5 doi: 10.1016/j.bjpt.2017.06.011. PMID: 28709588Free PMC Article
Effectiveness of Nerve Gliding Exercises on Carpal Tunnel Syndrome: A Systematic Review.
Ballestero-Pérez R, Plaza-Manzano G, Urraca-Gesto A, Romo-Romo F, Atín-Arratibel MLÁ, Pecos-Martín D, Gallego-Izquierdo T, Romero-Franco N
J Manipulative Physiol Ther 2017 Jan;40(1):50-59. Epub 2016 Nov 11 doi: 10.1016/j.jmpt.2016.10.004. PMID: 27842937
Management of lumbar spinal stenosis.
Lurie J, Tomkins-Lane C
BMJ 2016 Jan 4;352:h6234. doi: 10.1136/bmj.h6234. PMID: 26727925Free PMC Article

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