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Prenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases.
Cabet S, Putoux A, Lesca G, Lesage A, Massoud M, Guibaud L; Collaborators. Cabet S, et al. Ultrasound Obstet Gynecol. 2024 Feb;63(2):271-275. doi: 10.1002/uog.27450. Epub 2024 Jan 11. Ultrasound Obstet Gynecol. 2024. PMID: 37551048
Microcephaly with simplified gyral pattern (MSG) is an intrinsic genetic central nervous system disorder, characterized by microcephaly (a reduction of brain volume) and a simplified gyral pattern (a reduced number of gyri and shallow sul …
Microcephaly with simplified gyral pattern (MSG) is an intrinsic genetic central nervous system disorder, characterized …
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
Rasheed A, Gumus E, Zaki M, Johnson K, Manzoor H, LaForce G, Ross D, McEvoy-Venneri J, Stanley V, Lee S, Virani A, Ben-Omran T, Gleeson JG, Naz S, Schaffer A. Rasheed A, et al. J Med Genet. 2021 Apr;58(4):237-246. doi: 10.1136/jmedgenet-2020-106849. Epub 2020 May 21. J Med Genet. 2021. PMID: 32439809 Free PMC article.
RESULTS: Phenotype comparisons of patients revealed shared clinical features of moderate-to-severe ID, corpus callosum agenesis, mild ventriculomegaly, simplified gyral pattern, cerebral atrophy, delayed motor and verbal milestones and hypotonia, presenting w …
RESULTS: Phenotype comparisons of patients revealed shared clinical features of moderate-to-severe ID, corpus callosum agenesis, mild ventri …
Clinical features and neuroimaging (CT and MRI) findings in presumed Zika virus related congenital infection and microcephaly: retrospective case series study.
de Fatima Vasco Aragao M, van der Linden V, Brainer-Lima AM, Coeli RR, Rocha MA, Sobral da Silva P, Durce Costa Gomes de Carvalho M, van der Linden A, Cesario de Holanda A, Valenca MM. de Fatima Vasco Aragao M, et al. BMJ. 2016 Apr 13;353:i1901. doi: 10.1136/bmj.i1901. BMJ. 2016. PMID: 27075009 Free PMC article.
Seven of the eight (88%) children had enlarged cisterna magna, seven (88%) delayed myelination, and six each (75%) a moderate to severe decrease in brain volume, simplified gyral pattern, and abnormalities of the corpus callosum (38% hypogenesis and 38% hypop …
Seven of the eight (88%) children had enlarged cisterna magna, seven (88%) delayed myelination, and six each (75%) a moderate to severe decr …
Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification.
Germanaud D, Lefèvre J, Fischer C, Bintner M, Curie A, des Portes V, Eliez S, Elmaleh-Bergès M, Lamblin D, Passemard S, Operto G, Schaer M, Verloes A, Toro R, Mangin JF, Hertz-Pannier L. Germanaud D, et al. Neuroimage. 2014 Nov 15;102 Pt 2:317-31. doi: 10.1016/j.neuroimage.2014.07.057. Epub 2014 Aug 6. Neuroimage. 2014. PMID: 25107856
Indeed, in case of brain growth insufficiency, the pathophysiological relevance of the "simplified gyral pattern" phenotype is strongly disputed since almost no genotype-phenotype correlations have been found in primary microcephalies. ...They also show that …
Indeed, in case of brain growth insufficiency, the pathophysiological relevance of the "simplified gyral pattern" pheno …
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium; Beldjord C, Chelly J. Bahi-Buisson N, et al. Brain. 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082. Brain. 2014. PMID: 24860126
Systematic review of patients' neuroimaging and neuropathological data allowed us to distinguish at least five cortical malformation syndromes: (i) microlissencephaly (n = 12); (ii) lissencephaly (n = 19); (iii) central pachygyria and polymicrogyria-like cortical dysplasia (n = 2 …
Systematic review of patients' neuroimaging and neuropathological data allowed us to distinguish at least five cortical malformation syndrom …
Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry.
Peero EK, Kugelman N, Gindes L, Shariv A, Lev D, Tamarkin M, Haddad L, Bakry H, Weizman B, Shapiro I, Arad A, Kidron D, Lerman-Sagie T, Leibovitz Z. Peero EK, et al. Prenat Diagn. 2023 Jul;43(8):1066-1078. doi: 10.1002/pd.6359. Epub 2023 May 15. Prenat Diagn. 2023. PMID: 37115172
SF parameters were evaluated in predefined axial and coronal planes: insular height and length, SF depth, and the extent of the coverage of the insula by the frontal and temporal lobes. Intra-observer variability and inter-rater reliability for the studied parameters were …
SF parameters were evaluated in predefined axial and coronal planes: insular height and length, SF depth, and the extent of the coverage of …
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Pringsheim M, Mitter D, Schröder S, Warthemann R, Plümacher K, Kluger G, Baethmann M, Bast T, Braun S, Büttel HM, Conover E, Courage C, Datta AN, Eger A, Grebe TA, Hasse-Wittmer A, Heruth M, Höft K, Kaindl AM, Karch S, Kautzky T, Korenke GC, Kruse B, Lutz RE, Omran H, Patzer S, Philippi H, Ramsey K, Rating T, Rieß A, Schimmel M, Westman R, Zech FM, Zirn B, Ulmke PA, Sokpor G, Tuoc T, Leha A, Staudt M, Brockmann K. Pringsheim M, et al. Ann Clin Transl Neurol. 2019 Mar 3;6(4):655-668. doi: 10.1002/acn3.735. eCollection 2019 Apr. Ann Clin Transl Neurol. 2019. PMID: 31019990 Free PMC article.
Thickening of the fornices was not reported previously in FOXG1 syndrome. Simplified gyral pattern occurred significantly more frequently in patients with early truncating variants. ...INTERPRETATION: Combination of specific corpus callosum anomalies with …
Thickening of the fornices was not reported previously in FOXG1 syndrome. Simplified gyral pattern occurred significant …
A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia.
Abdel-Salam GMH, Abdel-Hamid MS. Abdel-Salam GMH, et al. Clin Genet. 2023 Sep;104(3):356-364. doi: 10.1111/cge.14357. Epub 2023 May 15. Clin Genet. 2023. PMID: 37190898
Biallelic variants in PPIL1 have been recently found to cause a very rare type of pontocerebellar hypoplasia and congenital microcephaly in which simplified gyral pattern was not observed in all of the patients. Here, we describe a series of nine patie …
Biallelic variants in PPIL1 have been recently found to cause a very rare type of pontocerebellar hypoplasia and congenital microcephaly in …
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.
Chartier S, Alby C, Boutaud L, Thomas S, Elkhartoufi N, Martinovic J, Kaplan J, Benachi A, Lacombe D, Sonigo P, Drunat S, Vekemans M, Agenor J, Encha Razavi F, Attie-Bitach T. Chartier S, et al. Birth Defects Res. 2018 Apr 17;110(7):598-602. doi: 10.1002/bdr2.1204. Epub 2018 Jan 22. Birth Defects Res. 2018. PMID: 29356416
An autopsy performed on the second sib showed moderate growth restriction and a microcephaly with simplified gyral pattern. The histopathological study discovered a malformed cortical plate. CONCLUSIONS: The present study confirms the involvement of RTTN gene …
An autopsy performed on the second sib showed moderate growth restriction and a microcephaly with simplified gyral pattern …
Subcortical band heterotopia with simplified gyral pattern and syndactyly.
Sicca F, Silengo M, Parrini E, Ferrero GB, Guerrini R. Sicca F, et al. Am J Med Genet A. 2003 Jun 1;119A(2):207-10. doi: 10.1002/ajmg.a.20111. Am J Med Genet A. 2003. PMID: 12749065
SBH had an irregular inner margin, organized in contiguous fascicles of migrating neurons, sometimes giving the appearance of many small contiguous gyri. The true cortex had decreased thickness and showed a simplified gyral pattern with decreased number of gy …
SBH had an irregular inner margin, organized in contiguous fascicles of migrating neurons, sometimes giving the appearance of many small con …
17 results