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Sacral segmentation defect

MedGen UID:
340514
Concept ID:
C1850329
Finding
Synonym: Sacral segmentation defects
 
HPO: HP:0008490

Conditions with this feature

Exstrophy-epispadias complex
MedGen UID:
338020
Concept ID:
C1850321
Disease or Syndrome
Carey et al. (1978) gave the name OEIS complex to a combination of defects comprising omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. This rare complex is thought to represent the most severe end of a spectrum of birth defects, the exstrophy-epispadias sequence, which, in order of increasing severity, includes phallic separation with epispadias, pubic diastasis, exstrophy of the bladder (600057), cloacal exstrophy, and OEIS complex. Very few instances of recurrence of anomalies in this cluster have been reported.

Professional guidelines

PubMed

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
Klinge PM, Leary OP, Allen PA, Svokos K, Sullivan P, Brinker T, Gokaslan ZL
J Neurosurg Spine 2024 Jun 1;40(6):758-766. Epub 2024 Mar 15 doi: 10.3171/2024.1.SPINE231191. PMID: 38489815
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

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
Otomo N, Mizumoto S, Lu HF, Takeda K, Campos-Xavier B, Mittaz-Crettol L, Guo L, Takikawa K, Nakamura M, Yamada S, Matsumoto M, Watanabe K, Ikegawa S
J Hum Genet 2019 Mar;64(3):261-264. Epub 2018 Dec 10 doi: 10.1038/s10038-018-0548-2. PMID: 30531807
Lewis SJ, Mohanty C, Gazendam AM, Kato S, Keshen SG, Lewis ND, Magana SP, Perlmutter D, Cape J
Eur Spine J 2018 Mar;27(3):636-643. Epub 2017 Sep 21 doi: 10.1007/s00586-017-5299-9. PMID: 28936559
Porter NA, Lalam RK, Tins BJ, Tyrrell PN, Singh J, Cassar-Pullicino VN
Skeletal Radiol 2014 Jan;43(1):55-60. Epub 2013 Oct 25 doi: 10.1007/s00256-013-1750-0. PMID: 24310344
Podnar S
Muscle Nerve 2006 Feb;33(2):278-82. doi: 10.1002/mus.20472. PMID: 16307442

Diagnosis

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
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
Gill KG
Pediatr Radiol 2022 Apr;52(4):777-785. Epub 2021 Nov 3 doi: 10.1007/s00247-021-05200-x. PMID: 34731287
Siegel DH
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):407-413. doi: 10.1002/ajmg.c.31659. PMID: 30580483
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

Therapy

Yu L, Zhang Y, Li W, Mao J, Li Y, Wang H, Li C, Yang L, He W, Jia Y, Tang W, Zhou L, Zhang Z, Jia Y, Tang X, Zhao X, An Y
J Clin Immunol 2024 May 28;44(6):137. doi: 10.1007/s10875-024-01740-7. PMID: 38805163
Gill KG
Pediatr Radiol 2022 Apr;52(4):777-785. Epub 2021 Nov 3 doi: 10.1007/s00247-021-05200-x. PMID: 34731287
Lewis SJ, Mohanty C, Gazendam AM, Kato S, Keshen SG, Lewis ND, Magana SP, Perlmutter D, Cape J
Eur Spine J 2018 Mar;27(3):636-643. Epub 2017 Sep 21 doi: 10.1007/s00586-017-5299-9. PMID: 28936559
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
Moran SL, Bakri K, Mardini S, Shin AY, Bishop AT
Microsurgery 2009;29(5):393-400. doi: 10.1002/micr.20655. PMID: 19378327

Prognosis

Otomo N, Mizumoto S, Lu HF, Takeda K, Campos-Xavier B, Mittaz-Crettol L, Guo L, Takikawa K, Nakamura M, Yamada S, Matsumoto M, Watanabe K, Ikegawa S
J Hum Genet 2019 Mar;64(3):261-264. Epub 2018 Dec 10 doi: 10.1038/s10038-018-0548-2. PMID: 30531807
Siegel DH
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):407-413. doi: 10.1002/ajmg.c.31659. PMID: 30580483
Lewis SJ, Mohanty C, Gazendam AM, Kato S, Keshen SG, Lewis ND, Magana SP, Perlmutter D, Cape J
Eur Spine J 2018 Mar;27(3):636-643. Epub 2017 Sep 21 doi: 10.1007/s00586-017-5299-9. PMID: 28936559
Farshad-Amacker NA, Lurie B, Herzog RJ, Farshad M
Eur Radiol 2014 Oct;24(10):2623-30. Epub 2014 Jun 25 doi: 10.1007/s00330-014-3277-8. PMID: 24962830
Singh S, Ahmed I, Rawat J, Panday A
BMJ Case Rep 2011 Jul 27;2011 doi: 10.1136/bcr.12.2010.3632. PMID: 22689733Free PMC Article

Clinical prediction guides

Aamir S, Imtiaz H, Rehman Z, Ambreen S, Ghani F, Naoureen A
J Ayub Med Coll Abbottabad 2020 Apr-Jun;32(2):234-237. PMID: 32584000
Imajo Y, Kanchiku T, Yoshida Y, Nishida N, Taguchi T
J Neurosurg Spine 2015 Apr;22(4):406-8. Epub 2015 Jan 30 doi: 10.3171/2014.10.SPINE1487. PMID: 25635636
Farshad-Amacker NA, Lurie B, Herzog RJ, Farshad M
Eur Radiol 2014 Oct;24(10):2623-30. Epub 2014 Jun 25 doi: 10.1007/s00330-014-3277-8. PMID: 24962830
Snider KT, Snider EJ, Degenhardt BF, Johnson JC, Kribs JW
J Manipulative Physiol Ther 2011 Jun;34(5):306-13. Epub 2011 May 14 doi: 10.1016/j.jmpt.2011.04.006. PMID: 21640254
Sairyo K, Goel VK, Vadapalli S, Vishnubhotla SL, Biyani A, Ebraheim N, Terai T, Sakai T
Spinal Cord 2006 Jul;44(7):440-4. Epub 2005 Nov 29 doi: 10.1038/sj.sc.3101867. PMID: 16317427

Recent systematic reviews

Sima S, Chen X, Sheldrick K, Lu A, Diwan AD
Spine J 2024 Aug;24(8):1431-1442. Epub 2024 Mar 16 doi: 10.1016/j.spinee.2024.03.010. PMID: 38499064
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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