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Abnormal sacral segmentation

MedGen UID:
370560
•Concept ID:
C1968942
•
Finding
HPO: HP:0008468

Definition

An abnormality related to a defect of vertebral separation of sacral vertebrae during development. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal sacral segmentation

Conditions with this feature

Acro-renal-mandibular syndrome
MedGen UID:
395425
•Concept ID:
C1860166
•
Disease or Syndrome
A very rare multiple congenital anomalies syndrome with characteristics of limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia.
See: Condition Record
Acro-renal-mandibular syndrome

Professional guidelines

PubMed

Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.
Metry D, Copp HL, Rialon KL, Iacobas I, Baselga E, Dobyns WB, Drolet B, Frieden IJ, Garzon M, Haggstrom A, Hanson D, Hollenbach L, Keppler-Noreuil KM, Maheshwari M, Siegel DH, Waseem S, Dias M
J Pediatr 2024 Sep;272:114101. Epub 2024 May 15 doi: 10.1016/j.jpeds.2024.114101. PMID: 38759778
Spinal Dorsal Intradural Arteriovenous Fistulas: Natural History, Imaging, and Management.
Essibayi MA, Srinivasan VM, Catapano JS, Graffeo CS, Lawton MT
Neurology 2023 Sep 19;101(12):524-535. Epub 2023 Apr 25 doi: 10.1212/WNL.0000000000207327. PMID: 37185123Free PMC Article
The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas.
Diociaiuti A, Baselga E, Boon LM, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Ghaffarpour N, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula M
Eur J Med Genet 2022 Jun;65(6):104517. Epub 2022 Apr 27 doi: 10.1016/j.ejmg.2022.104517. PMID: 35487416

Recent clinical studies

Etiology

Evidence showing the relationship between sagittal balance and clinical outcomes in surgical treatment of degenerative spinal diseases: a literature review.
Le Huec JC, Faundez A, Dominguez D, Hoffmeyer P, Aunoble S
Int Orthop 2015 Jan;39(1):87-95. Epub 2014 Sep 6 doi: 10.1007/s00264-014-2516-6. PMID: 25192690
Radiographic quantification and analysis of dysmorphic upper sacral osseous anatomy and associated iliosacral screw insertions.
Conflitti JM, Graves ML, Chip Routt ML Jr
J Orthop Trauma 2010 Oct;24(10):630-6. doi: 10.1097/BOT.0b013e3181dc50cd. PMID: 20871251
Quantification of the upper and second sacral segment safe zones in normal and dysmorphic sacra.
Gardner MJ, Morshed S, Nork SE, Ricci WM, Chip Routt ML Jr
J Orthop Trauma 2010 Oct;24(10):622-9. doi: 10.1097/BOT.0b013e3181cf0404. PMID: 20871250
The importance of spino-pelvic balance in L5-s1 developmental spondylolisthesis: a review of pertinent radiologic measurements.
Labelle H, Roussouly P, Berthonnaud E, Dimnet J, O'Brien M
Spine (Phila Pa 1976) 2005 Mar 15;30(6 Suppl):S27-34. doi: 10.1097/01.brs.0000155560.92580.90. PMID: 15767882
MR of terminal myelocystoceles.
Byrd SE, Harvey C, Darling CF
Eur J Radiol 1995 Sep;20(3):215-20. doi: 10.1016/0720-048x(95)00659-e. PMID: 8536754

Diagnosis

Spinal Dorsal Intradural Arteriovenous Fistulas: Natural History, Imaging, and Management.
Essibayi MA, Srinivasan VM, Catapano JS, Graffeo CS, Lawton MT
Neurology 2023 Sep 19;101(12):524-535. Epub 2023 Apr 25 doi: 10.1212/WNL.0000000000207327. PMID: 37185123Free PMC Article
Congenital musculoskeletal anomalies - key radiographic findings.
Gill KG
Pediatr Radiol 2022 Apr;52(4):777-785. Epub 2021 Nov 3 doi: 10.1007/s00247-021-05200-x. PMID: 34731287
Systematization of ambiguous genitalia.
Makiyan Z
Organogenesis 2016 Oct;12(4):169-182. Epub 2016 Jul 8 doi: 10.1080/15476278.2016.1210749. PMID: 27391116Free PMC Article
Malformations of dorsal induction.
Kanekar S, Kaneda H, Shively A
Semin Ultrasound CT MR 2011 Jun;32(3):189-99. doi: 10.1053/j.sult.2011.02.009. PMID: 21596275
Recognition of caudal regression syndrome.
Boulas MM
Adv Neonatal Care 2009 Apr;9(2):61-9; quiz 70-1. doi: 10.1097/ANC.0b013e31819de44f. PMID: 19363325

Therapy

Association of age and spinopelvic function in patients receiving a total hip arthroplasty.
Haffer H, Hu Z, Wang Z, Müllner M, Hardt S, Pumberger M
Sci Rep 2023 Feb 14;13(1):2589. doi: 10.1038/s41598-023-29545-5. PMID: 36788270Free PMC Article
Congenital musculoskeletal anomalies - key radiographic findings.
Gill KG
Pediatr Radiol 2022 Apr;52(4):777-785. Epub 2021 Nov 3 doi: 10.1007/s00247-021-05200-x. PMID: 34731287
LUMBAR syndrome: A case manifesting as cutaneous infantile hemangiomas of the lower extremity, perineum and gluteal region, and a review of published work.
Yu X, Zhang J, Wu Z, Liu M, Chen R, Gu Y, Li M, Yao Z
J Dermatol 2017 Jul;44(7):808-812. Epub 2017 Feb 13 doi: 10.1111/1346-8138.13763. PMID: 28191659
Sacral spinous processes: a morphologic classification and biomechanical characterization of strength.
Wang T, Fielding LC, Parikh A, Kothari M, Alamin T
Spine J 2015 Dec 1;15(12):2544-51. Epub 2015 Sep 4 doi: 10.1016/j.spinee.2015.08.058. PMID: 26343242
Evidence showing the relationship between sagittal balance and clinical outcomes in surgical treatment of degenerative spinal diseases: a literature review.
Le Huec JC, Faundez A, Dominguez D, Hoffmeyer P, Aunoble S
Int Orthop 2015 Jan;39(1):87-95. Epub 2014 Sep 6 doi: 10.1007/s00264-014-2516-6. PMID: 25192690

Prognosis

Clinical and radiological evaluation of caudal regression syndrome.
Krishnan V, Jaganathan S, Jayappa S, Glasier C, Choudhary A, Ramakrishnaiah R, Murphy J
Pediatr Radiol 2024 Aug;54(9):1451-1461. Epub 2024 May 16 doi: 10.1007/s00247-024-05945-1. PMID: 38750326
Anteroposterior pelvic radiograph findings correlate with sagittal spinopelvic motion.
Mills ES, Talehakimi A, Urness M, Wang JC, Piple AS, Chung BC, Tezuka T, Heckmann ND
Bone Joint J 2023 May 1;105-B(5):496-503. doi: 10.1302/0301-620X.105B5.BJJ-2022-0945.R1. PMID: 37121593
PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause.
Siegel DH
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):407-413. doi: 10.1002/ajmg.c.31659. PMID: 30580483
Evidence showing the relationship between sagittal balance and clinical outcomes in surgical treatment of degenerative spinal diseases: a literature review.
Le Huec JC, Faundez A, Dominguez D, Hoffmeyer P, Aunoble S
Int Orthop 2015 Jan;39(1):87-95. Epub 2014 Sep 6 doi: 10.1007/s00264-014-2516-6. PMID: 25192690
MR of terminal myelocystoceles.
Byrd SE, Harvey C, Darling CF
Eur J Radiol 1995 Sep;20(3):215-20. doi: 10.1016/0720-048x(95)00659-e. PMID: 8536754

Clinical prediction guides

Anteroposterior pelvic radiograph findings correlate with sagittal spinopelvic motion.
Mills ES, Talehakimi A, Urness M, Wang JC, Piple AS, Chung BC, Tezuka T, Heckmann ND
Bone Joint J 2023 May 1;105-B(5):496-503. doi: 10.1302/0301-620X.105B5.BJJ-2022-0945.R1. PMID: 37121593
Evidence showing the relationship between sagittal balance and clinical outcomes in surgical treatment of degenerative spinal diseases: a literature review.
Le Huec JC, Faundez A, Dominguez D, Hoffmeyer P, Aunoble S
Int Orthop 2015 Jan;39(1):87-95. Epub 2014 Sep 6 doi: 10.1007/s00264-014-2516-6. PMID: 25192690
Overall anatomical features and clinical value of the sacral nerve in high resolution computed tomography reconstruction.
Lin JF, Wang YH, Jiang BG, Zhang PX, Li YY, Zhang DY
Chin Med J (Engl) 2010 Nov;123(21):3015-9. PMID: 21162948
Spinal cord neural organization controlling the urinary bladder and striated sphincter.
Shefchyk SJ
Prog Brain Res 2002;137:71-82. doi: 10.1016/s0079-6123(02)37008-0. PMID: 12440360
Sacral anomaly and pelvic floor muscle in imperforate anus: a clinical and experimental study.
Inomata Y, Tanaka K, Ozawa K
Nihon Geka Hokan 1989 Mar 1;58(2):217-30. PMID: 2802920

Recent systematic reviews

Risks Associated with Surgical Management of Lumbosacral Transitional Vertebrae: Systematic Review of Surgical Considerations and Illustrative Case.
Albano S, Brown NJ, Pennington Z, Nguyen A, Hsu TI, Pham MH, Oh MY
World Neurosurg 2024 Jun;186:e54-e64. Epub 2024 Feb 11 doi: 10.1016/j.wneu.2024.02.033. PMID: 38350597

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