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Isolated megalencephaly

MedGen UID:
977842
Concept ID:
CN294037
Disease or Syndrome
Synonyms: Isolated macrencephaly; isolated macrencephaly; isolated megalencephaly; isolated megalencephaly (disease); nonsyndromic megalencephaly (disease)
 
Monarch Initiative: MONDO:0017089
Orphanet: ORPHA268920

Definition

A megalencephaly (disease) that is not part of a larger syndrome. [from MONDO]

Term Hierarchy

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
Bourgon N, Carmignac V, Sorlin A, Duffourd Y, Philippe C, Thauvin-Robinet C, Guibaud L, Faivre L, Vabres P, Kuentz P; Collaborators
Ultrasound Obstet Gynecol 2022 Apr;59(4):532-542. Epub 2022 Mar 10 doi: 10.1002/uog.23715. PMID: 34170046
Sarnat HB, Flores-Sarnat L
Brain Dev 2015 Jun;37(6):553-62. Epub 2014 Oct 19 doi: 10.1016/j.braindev.2014.08.010. PMID: 25451314
Mirzaa GM, Poduri A
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):156-72. Epub 2014 May 28 doi: 10.1002/ajmg.c.31401. PMID: 24888963
Malinger G, Lev D, Ben-Sira L, Hoffmann C, Herrera M, Viñals F, Vinkler H, Ginath S, Biran-Gol Y, Kidron D, Lerman-Sagie T
Ultrasound Obstet Gynecol 2011 Jan;37(1):72-81. doi: 10.1002/uog.8799. PMID: 20734344

Diagnosis

Pirozzi F, Nelson B, Mirzaa G
Dialogues Clin Neurosci 2018 Dec;20(4):267-282. doi: 10.31887/DCNS.2018.20.4/gmirzaa. PMID: 30936767Free PMC Article
Tan AP, Mankad K, Gonçalves FG, Talenti G, Alexia E
Top Magn Reson Imaging 2018 Aug;27(4):197-217. doi: 10.1097/RMR.0000000000000170. PMID: 30086108
Yılmazbaş P, Gökçay G, Eren T, Karapınar E, Kural B
Pediatr Int 2018 May;60(5):474-477. doi: 10.1111/ped.13543. PMID: 29498760
Lerman-Sagie T, Leibovitz Z
Can J Neurol Sci 2016 Sep;43(5):611-8. doi: 10.1017/cjn.2016.271. PMID: 27670206
Stutterd CA, Leventer RJ
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):227-39. Epub 2014 May 28 doi: 10.1002/ajmg.c.31399. PMID: 24888723

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
Chand P, Raghib MF, Salat MS, Arain FM
J Pak Med Assoc 2017 Sep;67(9):1444-1446. PMID: 28924292
Köksal T, Gündüz M, Özaydın E, Azak E
Indian J Pediatr 2015 Jul;82(7):645-8. Epub 2015 Feb 25 doi: 10.1007/s12098-015-1722-6. PMID: 25708061
Tuite PJ, Provias JP, Lang AE
J Neurol Neurosurg Psychiatry 1996 Nov;61(5):523-7. doi: 10.1136/jnnp.61.5.523. PMID: 8937352Free PMC Article

Prognosis

Sepulveda W, Sepulveda F, Schonstedt V, Stern J, Diaz-Serani R
Fetal Diagn Ther 2024;51(2):133-144. Epub 2023 Nov 25 doi: 10.1159/000535406. PMID: 38008087
Maguolo A, Antoniazzi F, Spano A, Fiorini E, Gaudino R, Mauro M, Cantalupo G, Biban P, Maitz S, Cavarzere P
Ital J Pediatr 2018 Sep 19;44(1):110. doi: 10.1186/s13052-018-0568-8. PMID: 30231930Free PMC Article
Malinger G, Lev D, Ben-Sira L, Hoffmann C, Herrera M, Viñals F, Vinkler H, Ginath S, Biran-Gol Y, Kidron D, Lerman-Sagie T
Ultrasound Obstet Gynecol 2011 Jan;37(1):72-81. doi: 10.1002/uog.8799. PMID: 20734344
Strassburg HM
J Child Neurol 1989;4 Suppl:S32-40. doi: 10.1177/0883073889004001s07. PMID: 2681376

Clinical prediction guides

Köksal T, Gündüz M, Özaydın E, Azak E
Indian J Pediatr 2015 Jul;82(7):645-8. Epub 2015 Feb 25 doi: 10.1007/s12098-015-1722-6. PMID: 25708061
Gutiérrez-Amavizca BE, Juárez-Vázquez CI, Orozco-Castellanos R, Arnaud L, Macías-Gómez NM, Barros-Nuñez P
Genet Couns 2013;24(2):185-91. PMID: 24032289
Malinger G, Lev D, Ben-Sira L, Hoffmann C, Herrera M, Viñals F, Vinkler H, Ginath S, Biran-Gol Y, Kidron D, Lerman-Sagie T
Ultrasound Obstet Gynecol 2011 Jan;37(1):72-81. doi: 10.1002/uog.8799. PMID: 20734344
Soto-Ares G, Delmaire C, Deries B, Vallee L, Pruvo JP
AJNR Am J Neuroradiol 2000 Sep;21(8):1511-9. PMID: 11003288Free PMC Article

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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