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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

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
Pradhan S
Electroencephalogr Clin Neurophysiol 1993 Feb;89(1):10-21. doi: 10.1016/0168-5597(93)90079-5. PMID: 7679625

Recent clinical studies

Etiology

Lv ZR, Li ZF, Yang ZP, Li X, Yang Q, Li K, Li J
Orthop Surg 2020 Feb;12(1):58-66. Epub 2019 Dec 18 doi: 10.1111/os.12582. PMID: 31854115Free PMC Article
Vazifehdan F, Karantzoulis VG, Igoumenou VG
Eur J Orthop Surg Traumatol 2018 Aug;28(6):1033-1038. Epub 2018 Mar 22 doi: 10.1007/s00590-018-2182-2. PMID: 29569131
Eastman JG, Adams MR, Frisoli K, Chip Routt ML Jr
J Orthop Trauma 2018 Feb;32(2):93-99. doi: 10.1097/BOT.0000000000001036. PMID: 29065034
Conflitti JM, Graves ML, Chip Routt ML Jr
J Orthop Trauma 2010 Oct;24(10):630-6. doi: 10.1097/BOT.0b013e3181dc50cd. PMID: 20871251
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

Diagnosis

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
Boulas MM
Adv Neonatal Care 2009 Apr;9(2):61-9; quiz 70-1. doi: 10.1097/ANC.0b013e31819de44f. PMID: 19363325
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

Therapy

Gill KG
Pediatr Radiol 2022 Apr;52(4):777-785. Epub 2021 Nov 3 doi: 10.1007/s00247-021-05200-x. PMID: 34731287
Vazifehdan F, Karantzoulis VG, Igoumenou VG
Eur J Orthop Surg Traumatol 2018 Aug;28(6):1033-1038. Epub 2018 Mar 22 doi: 10.1007/s00590-018-2182-2. PMID: 29569131
Charles YP, Walter A, Schuller S, Steib JP
Spine (Phila Pa 1976) 2017 May 1;42(9):E523-E531. doi: 10.1097/BRS.0000000000001888. PMID: 27584674
Gras F, Gottschling H, Schröder M, Marintschev I, Hofmann GO, Burgkart R
Clin Orthop Relat Res 2016 Oct;474(10):2304-11. Epub 2016 Jul 8 doi: 10.1007/s11999-016-4954-5. PMID: 27392768Free PMC Article
Nork SE, Jones CB, Harding SP, Mirza SK, Routt ML Jr
J Orthop Trauma 2001 May;15(4):238-46. doi: 10.1097/00005131-200105000-00002. PMID: 11371788

Prognosis

Siegel DH
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):407-413. doi: 10.1002/ajmg.c.31659. PMID: 30580483
Eastman JG, Adams MR, Frisoli K, Chip Routt ML Jr
J Orthop Trauma 2018 Feb;32(2):93-99. doi: 10.1097/BOT.0000000000001036. PMID: 29065034
Charles YP, Walter A, Schuller S, Steib JP
Spine (Phila Pa 1976) 2017 May 1;42(9):E523-E531. doi: 10.1097/BRS.0000000000001888. PMID: 27584674
Toy JO, Tinley JC, Eubanks JD, Qureshi SA, Ahn NU
Spine (Phila Pa 1976) 2012 Jan 1;37(1):E10-5. doi: 10.1097/BRS.0b013e3182257bb0. PMID: 21673629
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

Kawashima T, Sato F
Surg Radiol Anat 2023 Oct;45(10):1245-1256. Epub 2023 Jul 31 doi: 10.1007/s00276-023-03210-y. PMID: 37522999
Bagheri H, Govsa F
Surg Radiol Anat 2017 Sep;39(9):943-951. Epub 2017 Feb 28 doi: 10.1007/s00276-017-1823-1. PMID: 28247084
Charles YP, Walter A, Schuller S, Steib JP
Spine (Phila Pa 1976) 2017 May 1;42(9):E523-E531. doi: 10.1097/BRS.0000000000001888. PMID: 27584674
Lin JF, Wang YH, Jiang BG, Zhang PX, Li YY, Zhang DY
Chin Med J (Engl) 2010 Nov;123(21):3015-9. PMID: 21162948
Inomata Y, Tanaka K, Ozawa K
Nihon Geka Hokan 1989 Mar 1;58(2):217-30. PMID: 2802920

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