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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
Sherer DM, Sokolovski M, Dalloul M, Santoso P, Curcio J, Abulafia O
Am J Perinatol 2004 Jul;21(5):247-51. doi: 10.1055/s-2004-829869. PMID: 15232755

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
Johnson VE, Stewart W, Arena JD, Smith DH
Adv Neurobiol 2017;15:383-400. doi: 10.1007/978-3-319-57193-5_15. PMID: 28674990
Garel C, Moutard ML
Fetal Diagn Ther 2014;35(4):229-39. Epub 2014 Feb 27 doi: 10.1159/000358519. PMID: 24577226
Ahmad T, Borchert M, Geffner M
Pediatr Endocrinol Rev 2008 Mar;5(3):772-7. PMID: 18367998

Diagnosis

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
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
Fard MA, Wu-Chen WY, Man BL, Miller NR
Pediatr Endocrinol Rev 2010 Sep;8(1):18-24. PMID: 21037540

Therapy

Musgrove JM, Riley C
Neonatal Netw 2016;35(1):13-8. doi: 10.1891/0730-0832.35.1.13. PMID: 26842535
Bayar N, Arslan Ş, Çağırcı G, Erkal Z, Üreyen ÇM, Çay S, Köklü E, Yüksel İÖ, Küçükseymen S
J Stroke Cerebrovasc Dis 2015 Jun;24(6):1282-6. Epub 2015 Apr 20 doi: 10.1016/j.jstrokecerebrovasdis.2015.01.036. PMID: 25906928
Shaw CM, Alvord EC Jr
Neuroimaging Clin N Am 1997 Feb;7(1):101-42. PMID: 9100234
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
Stiller JW, Weinberger DR
Psychiatr Clin North Am 1985 Jun;8(2):339-56. PMID: 3895196

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
Garel C, Moutard ML
Fetal Diagn Ther 2014;35(4):229-39. Epub 2014 Feb 27 doi: 10.1159/000358519. PMID: 24577226
Volpe P, Campobasso G, De Robertis V, Rembouskos G
Prenat Diagn 2009 Apr;29(4):340-54. doi: 10.1002/pd.2208. PMID: 19184971

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
Phillips D, Steven DA, McDonald PJ, Riva-Cambrin J, Kulkarni AV, Mehta V
Childs Nerv Syst 2019 Sep;35(9):1565-1570. Epub 2019 Jun 6 doi: 10.1007/s00381-019-04231-y. PMID: 31172270
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
Landin-Romero R, Amann BL, Sarró S, Guerrero-Pedraza A, Vicens V, Rodriguez-Cano E, Vieta E, Salvador R, Pomarol-Clotet E, Radua J
Schizophr Bull 2016 Jan;42(1):229-38. Epub 2015 Jul 17 doi: 10.1093/schbul/sbv097. PMID: 26187283Free PMC Article
Savas Erdeve S, Ocal G, Berberoglu M, Siklar Z, Hacihamdioglu B, Evliyaoglu O, Fitoz S
J Pediatr Endocrinol Metab 2011;24(11-12):867-75. doi: 10.1515/jpem.2011.263. PMID: 22308834

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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