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Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

MedGen UID:
348108
•Concept ID:
C1860464
•
Disease or Syndrome
Synonyms: Congenital ptosis and posterior fusion of lumbosacral vertebrae; Familial posterior lumbosacral vertebral fusion and eyelid ptosis; Vertebral fusion posterior lumbosacral blepharoptosis; VERTEBRAL FUSION, POSTERIOR LUMBOSACRAL, WITH BLEPHAROPTOSIS
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008650
OMIM®: 192800
Orphanet: ORPHA2064

Definition

A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. [from ORDO]

Clinical features

From HPO
Posterior fusion of lumbosacral vertebrae
MedGen UID:
870715
•Concept ID:
C4025169
•
Finding
Bony fusion of the posterior part of the L5 vertebral body with the sacrum.
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
Congenital ptosis
MedGen UID:
78612
•Concept ID:
C0266573
•
Congenital Abnormality
The drooping of the upper or lower eyelid that is present at the time of birth.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPosterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
Follow this link to review classifications for Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome in Orphanet.

Recent clinical studies

Etiology

The incidence of failed back surgery syndrome varies between clinical setting and procedure type.
Stanton EW, Chang KE, Formanek B, Buser Z, Wang J
J Clin Neurosci 2022 Sep;103:56-61. Epub 2022 Jul 8 doi: 10.1016/j.jocn.2022.06.027. PMID: 35810607
Isthmic spondylolisthesis treated with circumferential arthrodesis (ALIF and posterior fixation): correction, fusion and indirect decompression.
Khalifé M, Dauzac C, Lenoir T, Magrino B
Acta Orthop Belg 2021 Dec;87(4):787-794. doi: 10.52628/87.4.27. PMID: 35172449
Effects of Lumbar Fusion Instrumentation Removal in Patients Who Experienced Continued Pain After Lumbar Spinal Fusion Surgery for Lumbar Degenerative Disease.
Ucler N, Cayli SR
Turk Neurosurg 2020;30(5):763-767. doi: 10.5137/1019-5149.JTN.30187-20.2. PMID: 32865223
Spondylolisthesis is Common, Early, and Severe in Loeys-Dietz Syndrome.
Kirby DJ, Dietz HC, Sponseller PD
J Pediatr Orthop 2018 Sep;38(8):e455-e461. doi: 10.1097/BPO.0000000000001203. PMID: 29889773
Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review.
Szumera E, Jasiewicz B, Potaczek T
J Spinal Cord Med 2018 Jul;41(4):496-500. Epub 2017 Sep 6 doi: 10.1080/10790268.2017.1369211. PMID: 28875772Free PMC Article

Diagnosis

The incidence of failed back surgery syndrome varies between clinical setting and procedure type.
Stanton EW, Chang KE, Formanek B, Buser Z, Wang J
J Clin Neurosci 2022 Sep;103:56-61. Epub 2022 Jul 8 doi: 10.1016/j.jocn.2022.06.027. PMID: 35810607
Spondylolisthesis is Common, Early, and Severe in Loeys-Dietz Syndrome.
Kirby DJ, Dietz HC, Sponseller PD
J Pediatr Orthop 2018 Sep;38(8):e455-e461. doi: 10.1097/BPO.0000000000001203. PMID: 29889773
Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review.
Szumera E, Jasiewicz B, Potaczek T
J Spinal Cord Med 2018 Jul;41(4):496-500. Epub 2017 Sep 6 doi: 10.1080/10790268.2017.1369211. PMID: 28875772Free PMC Article
Posterior decompression surgery for extraforaminal entrapment of the fifth lumbar spinal nerve at the lumbosacral junction.
Matsumoto M, Watanabe K, Ishii K, Tsuji T, Takaishi H, Nakamura M, Toyama Y, Chiba K
J Neurosurg Spine 2010 Jan;12(1):72-81. doi: 10.3171/2009.7.SPINE09344. PMID: 20043768
Posterior limbus vertebral lesions causing lumbosacral radiculopathy and the cauda equina syndrome.
Baba H, Uchida K, Furusawa N, Maezawa Y, Azuchi M, Kamitani K, Annen S, Imura S, Tomita K
Spinal Cord 1996 Jul;34(7):427-32. doi: 10.1038/sc.1996.76. PMID: 8963999

Therapy

Does fusion length matter? Total hip arthroplasty dislocation after extension of lumbosacral fusion: a case report.
Alsoof D, McDonald CL, Kovoor M, Diebo BG, Kuris EO, Antoci V, Daniels AH
Spine Deform 2023 Jan;11(1):253-257. Epub 2022 Aug 3 doi: 10.1007/s43390-022-00563-z. PMID: 35921039
Effects of Lumbar Fusion Instrumentation Removal in Patients Who Experienced Continued Pain After Lumbar Spinal Fusion Surgery for Lumbar Degenerative Disease.
Ucler N, Cayli SR
Turk Neurosurg 2020;30(5):763-767. doi: 10.5137/1019-5149.JTN.30187-20.2. PMID: 32865223
Lumbar plexopathy following instrumented posterior lumbar interbody fusion: a complication with use of Hohmann's retractor.
Sekharappa V, James I, Amritanand R, Venkatesh K, David KS
Eur Spine J 2013 Sep;22(9):2039-46. Epub 2013 Mar 31 doi: 10.1007/s00586-013-2748-y. PMID: 23543368Free PMC Article
Stress fracture of the hip and pubic rami after fusion to the sacrum in an adult with scoliosis: a case report.
Morcuende JA, Arauz S, Weinstein SL
Iowa Orthop J 2000;20:79-84. PMID: 10934629Free PMC Article
Posterior limbus vertebral lesions causing lumbosacral radiculopathy and the cauda equina syndrome.
Baba H, Uchida K, Furusawa N, Maezawa Y, Azuchi M, Kamitani K, Annen S, Imura S, Tomita K
Spinal Cord 1996 Jul;34(7):427-32. doi: 10.1038/sc.1996.76. PMID: 8963999

Prognosis

The incidence of failed back surgery syndrome varies between clinical setting and procedure type.
Stanton EW, Chang KE, Formanek B, Buser Z, Wang J
J Clin Neurosci 2022 Sep;103:56-61. Epub 2022 Jul 8 doi: 10.1016/j.jocn.2022.06.027. PMID: 35810607
Posterior decompression surgery for extraforaminal entrapment of the fifth lumbar spinal nerve at the lumbosacral junction.
Matsumoto M, Watanabe K, Ishii K, Tsuji T, Takaishi H, Nakamura M, Toyama Y, Chiba K
J Neurosurg Spine 2010 Jan;12(1):72-81. doi: 10.3171/2009.7.SPINE09344. PMID: 20043768
Translaminar screw fixation of the lumbar and lumbosacral spine. A 5-year follow-up.
Humke T, Grob D, Dvorak J, Messikommer A
Spine (Phila Pa 1976) 1998 May 15;23(10):1180-4. doi: 10.1097/00007632-199805150-00021. PMID: 9615372
Posterior limbus vertebral lesions causing lumbosacral radiculopathy and the cauda equina syndrome.
Baba H, Uchida K, Furusawa N, Maezawa Y, Azuchi M, Kamitani K, Annen S, Imura S, Tomita K
Spinal Cord 1996 Jul;34(7):427-32. doi: 10.1038/sc.1996.76. PMID: 8963999
Chronic disabling low back pain syndrome caused by internal disc derangements. The results of disc excision and posterior lumbar interbody fusion.
Lee CK, Vessa P, Lee JK
Spine (Phila Pa 1976) 1995 Feb 1;20(3):356-61. doi: 10.1097/00007632-199502000-00018. PMID: 7732473

Clinical prediction guides

Isthmic spondylolisthesis treated with circumferential arthrodesis (ALIF and posterior fixation): correction, fusion and indirect decompression.
Khalifé M, Dauzac C, Lenoir T, Magrino B
Acta Orthop Belg 2021 Dec;87(4):787-794. doi: 10.52628/87.4.27. PMID: 35172449
Effects of Lumbar Fusion Instrumentation Removal in Patients Who Experienced Continued Pain After Lumbar Spinal Fusion Surgery for Lumbar Degenerative Disease.
Ucler N, Cayli SR
Turk Neurosurg 2020;30(5):763-767. doi: 10.5137/1019-5149.JTN.30187-20.2. PMID: 32865223
Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review.
Szumera E, Jasiewicz B, Potaczek T
J Spinal Cord Med 2018 Jul;41(4):496-500. Epub 2017 Sep 6 doi: 10.1080/10790268.2017.1369211. PMID: 28875772Free PMC Article
Lumbar plexopathy following instrumented posterior lumbar interbody fusion: a complication with use of Hohmann's retractor.
Sekharappa V, James I, Amritanand R, Venkatesh K, David KS
Eur Spine J 2013 Sep;22(9):2039-46. Epub 2013 Mar 31 doi: 10.1007/s00586-013-2748-y. PMID: 23543368Free PMC Article
Posterior decompression surgery for extraforaminal entrapment of the fifth lumbar spinal nerve at the lumbosacral junction.
Matsumoto M, Watanabe K, Ishii K, Tsuji T, Takaishi H, Nakamura M, Toyama Y, Chiba K
J Neurosurg Spine 2010 Jan;12(1):72-81. doi: 10.3171/2009.7.SPINE09344. PMID: 20043768

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