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Pelvis syndrome

MedGen UID:
1374037
•Concept ID:
C4510867
•
Disease or Syndrome
Synonyms: Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome; LUMBAR syndrome; PELVIS (perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus) syndrome; PELVIS syndrome; pelvis syndrome; Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome; perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome; Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome; SACRAL syndrome; urorectal septum malformation sequence
SNOMED CT: PELVIS syndrome (725138002); PELVIS (perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus) syndrome (725138002); Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome (725138002)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019388
Orphanet: ORPHA83628

Definition

PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus and Skin tag. Eleven cases have been reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPelvis 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
Infantile haemangiomas: Identifying high-risk lesions in primary care.
Joseph J, Wain T
Aust J Gen Pract 2021 Dec;50(12):887-892. doi: 10.31128/AJGP-01-21-5815. PMID: 34845464
Cloacal reconstruction after a complex treatment of perineal haemangioma in a variant of PELVIS syndrome.
Zalimas A, Posiunas G, Strupas S, Raugalas R, Raistenskis J, Verkauskas G
BMC Pediatr 2015 Oct 8;15:150. doi: 10.1186/s12887-015-0469-6. PMID: 26450698Free PMC Article

Recent clinical studies

Etiology

The empty pelvis syndrome: a core data set from the PelvEx collaborative.
PelvEx Collaborative
Br J Surg 2024 Mar 2;111(3) doi: 10.1093/bjs/znae042. PMID: 38456677Free PMC Article
Empty pelvis syndrome: a retrospective audit from a tertiary cancer center.
Nekkanti SS, Jajoo B, Mohan A, Vasudevan L, Peelay Z, Kazi M, Desouza A, Saklani A
Langenbecks Arch Surg 2023 Aug 24;408(1):331. doi: 10.1007/s00423-023-03069-y. PMID: 37615748
Prevention and management of complications in pelvic exenteration.
Persson P, Chong P, Steele CW, Quinn M
Eur J Surg Oncol 2022 Nov;48(11):2277-2283. Epub 2022 Jan 1 doi: 10.1016/j.ejso.2021.12.470. PMID: 35101315
Empty pelvis syndrome: a systematic review of reconstruction techniques and their associated complications.
Johnson YL, West MA, Gould LE, Drami I, Behrenbruch C, Burns EM, Mirnezami AH, Jenkins JT
Colorectal Dis 2022 Jan;24(1):16-26. Epub 2021 Oct 25 doi: 10.1111/codi.15956. PMID: 34653292
PELVIS Syndrome.
Girard C, Bigorre M, Guillot B, Bessis D
Arch Dermatol 2006 Jul;142(7):884-8. doi: 10.1001/archderm.142.7.884. PMID: 16847205

Diagnosis

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
Clinical overlap of PHACE and LUMBAR syndromes.
Davenport R, Su JC, Nathalie J, Richmond CM, Yang Tan T, Robertson SJ
Pediatr Dermatol 2022 Sep;39(5):752-756. Epub 2022 Jul 27 doi: 10.1111/pde.15031. PMID: 35896169
Infantile haemangiomas: Identifying high-risk lesions in primary care.
Joseph J, Wain T
Aust J Gen Pract 2021 Dec;50(12):887-892. doi: 10.31128/AJGP-01-21-5815. PMID: 34845464
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
PELVIS Syndrome.
Girard C, Bigorre M, Guillot B, Bessis D
Arch Dermatol 2006 Jul;142(7):884-8. doi: 10.1001/archderm.142.7.884. PMID: 16847205

Therapy

The use of an obstetric balloon as a pelvic spacer in preventing empty pelvis syndrome after total pelvic exenteration in rectal cancers - A prospective safety and efficacy study for the Bakri balloon.
Kazi M, Desouza A, Bankar S, Jajoo B, Dohale S, Vadodaria D, Ghadi A, Ghandade N, Vasudevan L, Nashikkar C, Saklani A
Colorectal Dis 2023 Apr;25(4):616-623. Epub 2022 Nov 28 doi: 10.1111/codi.16424. PMID: 36408669
Prevention and management of complications in pelvic exenteration.
Persson P, Chong P, Steele CW, Quinn M
Eur J Surg Oncol 2022 Nov;48(11):2277-2283. Epub 2022 Jan 1 doi: 10.1016/j.ejso.2021.12.470. PMID: 35101315
Empty pelvis syndrome: a systematic review of reconstruction techniques and their associated complications.
Johnson YL, West MA, Gould LE, Drami I, Behrenbruch C, Burns EM, Mirnezami AH, Jenkins JT
Colorectal Dis 2022 Jan;24(1):16-26. Epub 2021 Oct 25 doi: 10.1111/codi.15956. PMID: 34653292
Empty pelvis syndrome: the use of breast prosthesis in the prevention of complications.
Carboni F, Federici O, Giofre' M, Zazza S, Valle M
Colorectal Dis 2019 Nov;21(11):1321-1325. Epub 2019 Jul 9 doi: 10.1111/codi.14737. PMID: 31230404
Empty pelvis syndrome.
Ghosh PS, Fawzi H
J Obstet Gynaecol 2004 Sep;24(6):714-5. doi: 10.1080/01443610400008248. PMID: 16147629

Prognosis

Eureka: objective assessment of the empty pelvis syndrome to measure volumetric changes in pelvic dead space following pelvic exenteration.
West CT, Tiwari A, Matthews L, Drami I, Mai DVC, Jenkins JT, Yano H, West MA, Mirnezami AH
Tech Coloproctol 2024 Jun 26;28(1):74. doi: 10.1007/s10151-024-02952-0. PMID: 38926191Free PMC Article
Different uses of the breast implant to prevent empty pelvic complications following pelvic exenteration.
Omarov N, Uymaz DS, Bugra D
BMJ Case Rep 2022 Mar 29;15(3) doi: 10.1136/bcr-2021-245630. PMID: 35351741Free PMC Article
Pelvic exenteration: Pre-, intra-, and post-operative considerations.
Ng KS, Lee PJM
Surg Oncol 2021 Jun;37:101546. Epub 2021 Mar 19 doi: 10.1016/j.suronc.2021.101546. PMID: 33799076
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
Empty pelvis syndrome.
Ghosh PS, Fawzi H
J Obstet Gynaecol 2004 Sep;24(6):714-5. doi: 10.1080/01443610400008248. PMID: 16147629

Clinical prediction guides

Eureka: objective assessment of the empty pelvis syndrome to measure volumetric changes in pelvic dead space following pelvic exenteration.
West CT, Tiwari A, Matthews L, Drami I, Mai DVC, Jenkins JT, Yano H, West MA, Mirnezami AH
Tech Coloproctol 2024 Jun 26;28(1):74. doi: 10.1007/s10151-024-02952-0. PMID: 38926191Free PMC Article
Long-term results of mesh pelvic floor reconstruction to address the empty pelvis syndrome.
Khaw CW, Ebrahimi N, Lee P, McCarthy ASE, Solomon M
Colorectal Dis 2022 Oct;24(10):1211-1215. Epub 2022 Jul 1 doi: 10.1111/codi.16203. PMID: 35652246
Pelvic exenteration: Pre-, intra-, and post-operative considerations.
Ng KS, Lee PJM
Surg Oncol 2021 Jun;37:101546. Epub 2021 Mar 19 doi: 10.1016/j.suronc.2021.101546. PMID: 33799076
PELVIS Syndrome.
Girard C, Bigorre M, Guillot B, Bessis D
Arch Dermatol 2006 Jul;142(7):884-8. doi: 10.1001/archderm.142.7.884. PMID: 16847205

Recent systematic reviews

Empty pelvis syndrome: a systematic review of reconstruction techniques and their associated complications.
Johnson YL, West MA, Gould LE, Drami I, Behrenbruch C, Burns EM, Mirnezami AH, Jenkins JT
Colorectal Dis 2022 Jan;24(1):16-26. Epub 2021 Oct 25 doi: 10.1111/codi.15956. PMID: 34653292

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