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Abnormal septum pellucidum morphology

MedGen UID:
870448
Concept ID:
C4024894
Anatomical Abnormality
Synonym: Abnormality of the septum pellucidum
 
HPO: HP:0007375

Definition

An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. [from HPO]

Conditions with this feature

Intellectual disability, X-linked, syndromic 33
MedGen UID:
895979
Concept ID:
C4225418
Disease or Syndrome
X-linked syndromic intellectual developmental disorder-33 (MRXS33) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Professional guidelines

PubMed

Di Pasquo E, Kuleva M, Arthuis C, Morganelli G, Ormitti F, Millischer AE, Grevent D, Ville Y, Ghi T, Salomon LJ
Ultrasound Obstet Gynecol 2022 Feb;59(2):153-161. Epub 2022 Jan 18 doi: 10.1002/uog.23759. PMID: 34396620
Borkowski-Tillman T, Garcia-Rodriguez R, Viñals F, Branco M, Kradjen-Haratz K, Ben-Sira L, Lerman-Sagie T, Malinger G
Prenat Diagn 2020 May;40(6):674-680. Epub 2020 Mar 31 doi: 10.1002/pd.5663. PMID: 32037567
Righini A, Zirpoli S, Mrakic F, Parazzini C, Pogliani L, Triulzi F
AJNR Am J Neuroradiol 2004 Feb;25(2):343-6. PMID: 14970044Free PMC Article

Recent clinical studies

Etiology

Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Di Pasquo E, Kuleva M, Arthuis C, Morganelli G, Ormitti F, Millischer AE, Grevent D, Ville Y, Ghi T, Salomon LJ
Ultrasound Obstet Gynecol 2022 Feb;59(2):153-161. Epub 2022 Jan 18 doi: 10.1002/uog.23759. PMID: 34396620
Chaoui R, Heling KS, Zhao Y, Sinkovskaya E, Abuhamad A, Karl K
Prenat Diagn 2016 Oct;36(10):911-915. Epub 2016 Aug 30 doi: 10.1002/pd.4911. PMID: 27502038
Toivonen P, Könönen M, Niskanen E, Vaurio O, Repo-Tiihonen E, Seppänen A, Aronen HJ, Vanninen R, Tiihonen J, Laakso MP
Br J Psychiatry 2013 Aug;203(2):152-3. doi: 10.1192/bjp.bp.112.123844. PMID: 23908342
Miele VJ, Bailes JE, Martin NA
Neurosurg Focus 2006 Oct 15;21(4):E9. PMID: 17112199

Diagnosis

Society for Maternal-Fetal Medicine (SMFM), Ward A, Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B23-B26. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.180. PMID: 33168214
Deeg KH, Gassner I
Ultraschall Med 2010 Dec;31(6):548-60; quiz 561-3. Epub 2010 Nov 29 doi: 10.1055/s-0029-1245651. PMID: 21117007
Fard MA, Wu-Chen WY, Man BL, Miller NR
Pediatr Endocrinol Rev 2010 Sep;8(1):18-24. PMID: 21037540
Coll Masfarré S, Majós Torró C, Aguilera Grijalvo C, Pons Irazazábal LC
Eur Radiol 1998;8(4):631-3. doi: 10.1007/s003300050450. PMID: 9569338
Guion-Almeida ML, Richieri-Costa A, Saavedra D, Cohen MM Jr
Am J Med Genet 1996 Jan 11;61(2):152-3. doi: 10.1002/(SICI)1096-8628(19960111)61:2<152::AID-AJMG9>3.0.CO;2-Z. PMID: 8669442

Therapy

Rajasekharan C, Karthik V, Harikrishnan M, Lekshmi S
BMJ Case Rep 2018 Jun 28;2018 doi: 10.1136/bcr-2018-225511. PMID: 29954773Free PMC Article
Musgrove JM, Riley C
Neonatal Netw 2016;35(1):13-8. doi: 10.1891/0730-0832.35.1.13. PMID: 26842535
Yanase M, Kaido T, Yamada M, Watanabe M
BMJ Case Rep 2012 Jun 28;2012 doi: 10.1136/bcr-11-2011-5219. PMID: 22744256Free PMC Article
Chiu HK, Kletter GB
J Pediatr Endocrinol Metab 2007 Jun;20(6):733-7. doi: 10.1515/jpem.2007.20.6.733. PMID: 17663299
Hageman G, Willemse J, van Ketel BA, Barth PG, Lindhout D
Neuropediatrics 1987 Feb;18(1):45-50. doi: 10.1055/s-2008-1052435. PMID: 3561707

Prognosis

Di Pasquo E, Kuleva M, Arthuis C, Morganelli G, Ormitti F, Millischer AE, Grevent D, Ville Y, Ghi T, Salomon LJ
Ultrasound Obstet Gynecol 2022 Feb;59(2):153-161. Epub 2022 Jan 18 doi: 10.1002/uog.23759. PMID: 34396620
Society for Maternal-Fetal Medicine (SMFM), Ward A, Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B23-B26. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.180. PMID: 33168214
Braga VL, da Costa MDS, Riera R, Dos Santos Rocha LP, de Oliveira Santos BF, Matsumura Hondo TT, de Oliveira Chagas M, Cavalheiro S
Pediatr Neurol 2018 Oct;87:23-29. Epub 2018 Aug 8 doi: 10.1016/j.pediatrneurol.2018.08.001. PMID: 30501885
Karl K, Kainer F, Heling KS, Chaoui R
Ultraschall Med 2011 Aug;32(4):342-61. Epub 2011 Aug 1 doi: 10.1055/s-0031-1273463. PMID: 21809236
Bodensteiner JB, Schaefer GB
Sports Med 1997 Dec;24(6):361-5. doi: 10.2165/00007256-199724060-00002. PMID: 9421861

Clinical prediction guides

Hu X, Shang N
Prenat Diagn 2023 Jun;43(6):763-772. Epub 2023 Jan 29 doi: 10.1002/pd.6316. PMID: 36670513
Braga VL, da Costa MDS, Riera R, Dos Santos Rocha LP, de Oliveira Santos BF, Matsumura Hondo TT, de Oliveira Chagas M, Cavalheiro S
Pediatr Neurol 2018 Oct;87:23-29. Epub 2018 Aug 8 doi: 10.1016/j.pediatrneurol.2018.08.001. PMID: 30501885
Chaoui R, Heling KS, Zhao Y, Sinkovskaya E, Abuhamad A, Karl K
Prenat Diagn 2016 Oct;36(10):911-915. Epub 2016 Aug 30 doi: 10.1002/pd.4911. PMID: 27502038
Leal E, Macías-Gómez N, Rodríguez L, Mercado FM, Barros-Núñez P
Clin Imaging 2003 Jan-Feb;27(1):23-6. doi: 10.1016/s0899-7071(02)00496-5. PMID: 12504316
Hageman G, Willemse J, van Ketel BA, Barth PG, Lindhout D
Neuropediatrics 1987 Feb;18(1):45-50. doi: 10.1055/s-2008-1052435. PMID: 3561707

Recent systematic reviews

Sparks P, Lawrence T, Hinze S
Clin J Sport Med 2020 Mar;30 Suppl 1:S1-S10. doi: 10.1097/JSM.0000000000000541. PMID: 32132472
Trzesniak C, Oliveira IR, Kempton MJ, Galvão-de Almeida A, Chagas MH, Ferrari MC, Filho AS, Zuardi AW, Prado DA, Busatto GF, McGuire PK, Hallak JE, Crippa JA
Schizophr Res 2011 Jan;125(1):1-12. Epub 2010 Oct 20 doi: 10.1016/j.schres.2010.09.016. PMID: 20965698

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