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Lissencephaly type 3

MedGen UID:
369910
Concept ID:
C1969029
Disease or Syndrome
Synonym: Lissencephaly 3
SNOMED CT: Type 3 lissencephaly (1003444000)
 
Monarch Initiative: MONDO:0015148
Orphanet: ORPHA102011

Professional guidelines

PubMed

Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H
Orphanet J Rare Dis 2019 Jul 16;14(1):179. doi: 10.1186/s13023-019-1119-0. PMID: 31311558Free PMC Article
Sato T, Murakami T, Ishiguro K, Shichiji M, Saito K, Osawa M, Nagata S, Ishigaki K
Brain Dev 2016 Mar;38(3):324-30. Epub 2015 Sep 9 doi: 10.1016/j.braindev.2015.08.010. PMID: 26363734
Mori K, Shimada J, Kurisaka M, Sato K, Watanabe K
Brain Dev 1995 Sep-Oct;17(5):338-48. doi: 10.1016/0387-7604(95)00070-r. PMID: 8579221

Recent clinical studies

Etiology

Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F
Prenat Diagn 2024 Apr;44(4):422-431. Epub 2023 Dec 6 doi: 10.1002/pd.6466. PMID: 38054560Free PMC Article
Andrade DM
Hum Genet 2009 Jul;126(1):173-93. Epub 2009 Jun 18 doi: 10.1007/s00439-009-0702-1. PMID: 19536565
van Reeuwijk J, Brunner HG, van Bokhoven H
Clin Genet 2005 Apr;67(4):281-9. doi: 10.1111/j.1399-0004.2004.00368.x. PMID: 15733261
de Rijk-van Andel JF, van der Knaap MS, Valk J, Arts WF
Neuroradiology 1991;33(3):230-3. doi: 10.1007/BF00588223. PMID: 1881540
de Rijk-van Andel JF, Arts WF, Hofman A, Staal A, Niermeijer MF
Neuroepidemiology 1991;10(4):200-4. doi: 10.1159/000110270. PMID: 1745330

Diagnosis

Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F
Prenat Diagn 2024 Apr;44(4):422-431. Epub 2023 Dec 6 doi: 10.1002/pd.6466. PMID: 38054560Free PMC Article
Friocourt G, Marcorelles P, Saugier-Veber P, Quille ML, Marret S, Laquerrière A
Acta Neuropathol 2011 Feb;121(2):149-70. Epub 2010 Nov 3 doi: 10.1007/s00401-010-0768-9. PMID: 21046408Free PMC Article
Leventer R
Handb Clin Neurol 2008;87:205-18. doi: 10.1016/S0072-9752(07)87013-8. PMID: 18809027
Mizuguchi M
Congenit Anom (Kyoto) 2003 Mar;43(1):22-8. doi: 10.1111/j.1741-4520.2003.tb01023.x. PMID: 12692400
Hashimoto T, Fukuda K, Hiura K, Endo S, Tayama M, Miyao M
Brain Dev 1984;6(3):331-5. doi: 10.1016/s0387-7604(84)80048-0. PMID: 6486382

Therapy

Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F
Prenat Diagn 2024 Apr;44(4):422-431. Epub 2023 Dec 6 doi: 10.1002/pd.6466. PMID: 38054560Free PMC Article
Kolbjer S, Martin DA, Pettersson M, Dahlin M, Anderlid BM
Eur J Paediatr Neurol 2021 Jan;30:71-81. Epub 2021 Jan 8 doi: 10.1016/j.ejpn.2020.12.011. PMID: 33453472
Ito M, Fukuda M, Suzuki Y, Wakamoto H, Ishii E
BMC Pediatr 2017 Mar 14;17(1):73. doi: 10.1186/s12887-017-0835-7. PMID: 28292283Free PMC Article
Hizem Y, Gargouri A, Ben Djebara M, Kacem I, Abdelkefi I, Jemli F, Gouider R
Neurol Sci 2012 Jun;33(3):631-3. Epub 2011 Sep 20 doi: 10.1007/s10072-011-0780-4. PMID: 21932090
de Rijk-van Andel JF, Arts WF, Barth PG, Loonen MC
Dev Med Child Neurol 1990 Aug;32(8):707-17. doi: 10.1111/j.1469-8749.1990.tb08431.x. PMID: 2210085

Prognosis

Kolbjer S, Martin DA, Pettersson M, Dahlin M, Anderlid BM
Eur J Paediatr Neurol 2021 Jan;30:71-81. Epub 2021 Jan 8 doi: 10.1016/j.ejpn.2020.12.011. PMID: 33453472
Lee JS, Lee KB, Song H, Sun C, Kim MJ, Cho SI, Lee YK, Park SS, Seong MW
Eur J Hum Genet 2021 Mar;29(3):463-470. Epub 2020 Nov 24 doi: 10.1038/s41431-020-00759-9. PMID: 33235377Free PMC Article
Ito M, Fukuda M, Suzuki Y, Wakamoto H, Ishii E
BMC Pediatr 2017 Mar 14;17(1):73. doi: 10.1186/s12887-017-0835-7. PMID: 28292283Free PMC Article
Kato M, Dobyns WB
Hum Mol Genet 2003 Apr 1;12 Spec No 1:R89-96. doi: 10.1093/hmg/ddg086. PMID: 12668601
de Rijk-van Andel JF, Arts WF, Hofman A, Staal A, Niermeijer MF
Neuroepidemiology 1991;10(4):200-4. doi: 10.1159/000110270. PMID: 1745330

Clinical prediction guides

Kolbjer S, Martin DA, Pettersson M, Dahlin M, Anderlid BM
Eur J Paediatr Neurol 2021 Jan;30:71-81. Epub 2021 Jan 8 doi: 10.1016/j.ejpn.2020.12.011. PMID: 33453472
Hizem Y, Gargouri A, Ben Djebara M, Kacem I, Abdelkefi I, Jemli F, Gouider R
Neurol Sci 2012 Jun;33(3):631-3. Epub 2011 Sep 20 doi: 10.1007/s10072-011-0780-4. PMID: 21932090
Nabi NU, Mezer E, Blaser SI, Levin AA, Buncic JR
J AAPOS 2003 Jun;7(3):178-84. doi: 10.1016/s1091-8531(02)42005-8. PMID: 12825057
Kato M, Dobyns WB
Hum Mol Genet 2003 Apr 1;12 Spec No 1:R89-96. doi: 10.1093/hmg/ddg086. PMID: 12668601
Jellinger K
Brain Dev 1987;9(4):349-57. doi: 10.1016/s0387-7604(87)80106-7. PMID: 3324792

Recent systematic reviews

Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F
Prenat Diagn 2024 Apr;44(4):422-431. Epub 2023 Dec 6 doi: 10.1002/pd.6466. PMID: 38054560Free PMC Article

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