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Thick pachygyria

MedGen UID:
1689044
Concept ID:
C5209269
Congenital Abnormality
Synonyms: Pachygyria with cortical thickness > 10 mm; Pachygyria with cortical thickness above 10 mm
 
HPO: HP:0020187

Definition

Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. [from HPO]

Professional guidelines

PubMed

Lerman-Sagie T, Pogledic I, Leibovitz Z, Malinger G
Eur J Paediatr Neurol 2021 Sep;34:50-61. Epub 2021 Aug 3 doi: 10.1016/j.ejpn.2021.08.001. PMID: 34390998
Bahi-Buisson N, Souville I, Fourniol FJ, Toussaint A, Moores CA, Houdusse A, Lemaitre JY, Poirier K, Khalaf-Nazzal R, Hully M, Leger PL, Elie C, Boddaert N, Beldjord C, Chelly J, Francis F; SBH-LIS European Consortium
Brain 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323. PMID: 23365099Free PMC Article
Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB
Eur J Hum Genet 2001 Jan;9(1):5-12. doi: 10.1038/sj.ejhg.5200548. PMID: 11175293

Recent clinical studies

Etiology

Chiba E, Sato N, Kimura Y, Shigemoto Y, Maki H, Arizono E, Hamamoto K, Taniguchi G, Iwasaki M, Ota M, Matsuda H, Nakagawa E
J Neuroimaging 2023 Sep-Oct;33(5):731-736. Epub 2023 Jun 25 doi: 10.1111/jon.13141. PMID: 37355835
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB
Semin Cell Dev Biol 2023 Mar 15;137:87-95. Epub 2022 Jul 30 doi: 10.1016/j.semcdb.2022.07.009. PMID: 35915025
Zombor M, Kalmár T, Nagy N, Berényi M, Telcs B, Maróti Z, Brandau O, Sztriha L
J Appl Genet 2019 May;60(2):151-162. Epub 2019 Feb 1 doi: 10.1007/s13353-019-00486-y. PMID: 30706430
Allanson JE, Ledbetter DH, Dobyns WB
J Med Genet 1998 Nov;35(11):920-3. doi: 10.1136/jmg.35.11.920. PMID: 9832039Free PMC Article
Aicardi J
Brain Dev 1991;13(1):1-8. doi: 10.1016/s0387-7604(12)80289-0. PMID: 2063992

Diagnosis

Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB
Semin Cell Dev Biol 2023 Mar 15;137:87-95. Epub 2022 Jul 30 doi: 10.1016/j.semcdb.2022.07.009. PMID: 35915025
Lerman-Sagie T, Pogledic I, Leibovitz Z, Malinger G
Eur J Paediatr Neurol 2021 Sep;34:50-61. Epub 2021 Aug 3 doi: 10.1016/j.ejpn.2021.08.001. PMID: 34390998
de Fatima Viana Vasco Aragao M, de Lima Petribu NC, van der Linden V, Valenca MM, de Brito CAA, Parizel PM
Top Magn Reson Imaging 2019 Feb;28(1):1-14. doi: 10.1097/RMR.0000000000000193. PMID: 30817674
Mutch CA, Poduri A, Sahin M, Barry B, Walsh CA, Barkovich AJ
AJNR Am J Neuroradiol 2016 Mar;37(3):528-35. Epub 2015 Nov 12 doi: 10.3174/ajnr.A4552. PMID: 26564436Free PMC Article
Aida N
J Magn Reson Imaging 1998 Mar-Apr;8(2):317-26. doi: 10.1002/jmri.1880080211. PMID: 9562058

Therapy

Zombor M, Kalmár T, Nagy N, Berényi M, Telcs B, Maróti Z, Brandau O, Sztriha L
J Appl Genet 2019 May;60(2):151-162. Epub 2019 Feb 1 doi: 10.1007/s13353-019-00486-y. PMID: 30706430

Prognosis

Lerman-Sagie T, Pogledic I, Leibovitz Z, Malinger G
Eur J Paediatr Neurol 2021 Sep;34:50-61. Epub 2021 Aug 3 doi: 10.1016/j.ejpn.2021.08.001. PMID: 34390998
Greiner A, Kaessmair S, Budday S
Soft Matter 2021 Feb 15;17(5):1210-1222. doi: 10.1039/d0sm02209h. PMID: 33480902
Budday S, Raybaud C, Kuhl E
Sci Rep 2014 Jul 10;4:5644. doi: 10.1038/srep05644. PMID: 25008163Free PMC Article
Bahi-Buisson N, Souville I, Fourniol FJ, Toussaint A, Moores CA, Houdusse A, Lemaitre JY, Poirier K, Khalaf-Nazzal R, Hully M, Leger PL, Elie C, Boddaert N, Beldjord C, Chelly J, Francis F; SBH-LIS European Consortium
Brain 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323. PMID: 23365099Free PMC Article
Aicardi J
Brain Dev 1991;13(1):1-8. doi: 10.1016/s0387-7604(12)80289-0. PMID: 2063992

Clinical prediction guides

Greiner A, Kaessmair S, Budday S
Soft Matter 2021 Feb 15;17(5):1210-1222. doi: 10.1039/d0sm02209h. PMID: 33480902
Tallinen T, Chung JY, Biggins JS, Mahadevan L
Proc Natl Acad Sci U S A 2014 Sep 2;111(35):12667-72. Epub 2014 Aug 18 doi: 10.1073/pnas.1406015111. PMID: 25136099Free PMC Article
Toba S, Hirotsune S
Neuropathology 2012 Aug;32(4):432-9. Epub 2012 Mar 7 doi: 10.1111/j.1440-1789.2012.01301.x. PMID: 22393875
Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D
Am J Med Genet 1999 Oct 8;86(4):331-7. PMID: 10494089
Allanson JE, Ledbetter DH, Dobyns WB
J Med Genet 1998 Nov;35(11):920-3. doi: 10.1136/jmg.35.11.920. PMID: 9832039Free PMC Article

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