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2008 1
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11 results

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Page 1
Imaging of Microcephaly.
Okafor C, Kanekar S. Okafor C, et al. Clin Perinatol. 2022 Sep;49(3):693-713. doi: 10.1016/j.clp.2022.04.004. Clin Perinatol. 2022. PMID: 36113930 Review.
Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.
Valenzuela I, Boronat S, Martínez-Sáez E, Clemente M, Sánchez-Montañez Á, Munell F, Carrascosa A, Macaya A. Valenzuela I, et al. Eur J Med Genet. 2017 Oct;60(10):517-520. doi: 10.1016/j.ejmg.2017.07.007. Epub 2017 Jul 12. Eur J Med Genet. 2017. PMID: 28711742 Review.
Microcephaly with simplified gyration, epilepsy and permanent neonatal diabetes syndrome (MEDS) is a recently described, autosomal recessive-inherited syndrome. We report the case of an infant presenting with lethargy at age five weeks and clinical findings of persistent h …
Microcephaly with simplified gyration, epilepsy and permanent neonatal diabetes syndrome (MEDS) is a recently described, autosomal re …
Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature.
Aygun C, Celik FC, Nural MS, Azak E, Kucukoduk S, Ogur G, Incesu L. Aygun C, et al. Am J Med Genet A. 2012 Jun;158A(6):1400-5. doi: 10.1002/ajmg.a.35306. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22529034 Review.
We report on a patient with Sedaghatian type spondylometaphyseal dysplasia (SSMD) who presented with metaphyseal dysplasia, congenital atrioventricular block, simplified gyral pattern, hypogenesis of corpus callosum, and severe cerebellar hypoplasia. ...
We report on a patient with Sedaghatian type spondylometaphyseal dysplasia (SSMD) who presented with metaphyseal dysplasia, congenital atrio …
MCPH1: A Novel Case Report and a Review of the Literature.
Caraffi SG, Pollazzon M, Farooq M, Fatima A, Larsen LA, Zuntini R, Napoli M, Garavelli L. Caraffi SG, et al. Genes (Basel). 2022 Apr 2;13(4):634. doi: 10.3390/genes13040634. Genes (Basel). 2022. PMID: 35456440 Free PMC article. Review.
The genetic etiology of MCPH is heterogeneous and comprises more than 20 loci, nearly all following a recessive inheritance pattern. The first causative gene identified, MCPH1 or Microcephalin, encodes a centrosomal protein that modulates chromosome condensation and cell c …
The genetic etiology of MCPH is heterogeneous and comprises more than 20 loci, nearly all following a recessive inheritance pattern. …
Magnetic Resonance Imaging of Malformations of Cortical Development-A Comprehensive Review.
Khandelwal A, Aggarwal A, Sharma A, Malik A, Bose A. Khandelwal A, et al. World Neurosurg. 2022 Mar;159:70-79. doi: 10.1016/j.wneu.2021.12.011. Epub 2021 Dec 8. World Neurosurg. 2022. PMID: 34896352 Review.
Malformations of cortical development (MCDs) are structural anomalies that disrupt the normal process of cortical development. These include microcephaly with simplified gyral pattern/microlissencephaly, hemimegalencephaly, focal cortical dysplasia, lissencep …
Malformations of cortical development (MCDs) are structural anomalies that disrupt the normal process of cortical development. These include …
What We Can Find Beyond the Classic Neuroimaging Findings of Congenital Zika Virus Syndrome?
Niemeyer B, Hollanda R, Muniz B, Marchiori E. Niemeyer B, et al. Eur Neurol. 2020;83(1):17-24. doi: 10.1159/000505834. Epub 2020 Jan 22. Eur Neurol. 2020. PMID: 31968331 Free article. Review.
SUMMARY: The objective of this article is to describe infrequent and rarely discussed imaging (computed tomography and magnetic resonance imaging) findings of CZVS, in addition to those classically described such as a simplified gyral pattern, ventriculomegal …
SUMMARY: The objective of this article is to describe infrequent and rarely discussed imaging (computed tomography and magnetic resonance im …
Updated Imaging Findings in Congenital Zika Syndrome: A Disease Story That is Still Being Written.
de Fatima Viana Vasco Aragao M, de Lima Petribu NC, van der Linden V, Valenca MM, de Brito CAA, Parizel PM. de Fatima Viana Vasco Aragao M, et al. Top Magn Reson Imaging. 2019 Feb;28(1):1-14. doi: 10.1097/RMR.0000000000000193. Top Magn Reson Imaging. 2019. PMID: 30817674 Review.
In congenital Zika virus syndrome (CZS), the most frequent radiological findings are calcifications in the cortical-white matter junction and malformations of cortical development (pachygyria or polymicrogyria, which occur predominantly in the frontal lobes, or a simplified …
In congenital Zika virus syndrome (CZS), the most frequent radiological findings are calcifications in the cortical-white matter junction an …
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.
Aoki S, Watanabe K, Kato M, Konishi Y, Kubota K, Kobayashi E, Nakashima M, Saitsu H. Aoki S, et al. Neurogenetics. 2024 Jan;25(1):3-11. doi: 10.1007/s10048-023-00737-5. Epub 2023 Oct 26. Neurogenetics. 2024. PMID: 37882972 Review.
(Val247Glufs*21) variant and showed profound intellectual disability, hepatomegaly, a simplified gyral pattern, and a thin corpus callosum without congenital dysmorphic features. ...
(Val247Glufs*21) variant and showed profound intellectual disability, hepatomegaly, a simplified gyral pattern, and a t …
Congenital Zika Syndrome: The Main Cause of Death and Correspondence Between Brain CT and Postmortem Histological Section Findings From the Same Individuals.
de Fatima Viana Vasco Aragão M, van der Linden V, Petribu NC, Valenca MM, Parizel PM, de Mello RJV. de Fatima Viana Vasco Aragão M, et al. Top Magn Reson Imaging. 2019 Feb;28(1):29-33. doi: 10.1097/RMR.0000000000000194. Top Magn Reson Imaging. 2019. PMID: 30817678 Review.
The findings concerning calcifications and brain malformations obtained from non-contrast computed tomography (CT) demonstrated good agreement with findings obtained from the postmortem pathological analysis; however, CT failed to detect discontinuity of the pia mater with hetero …
The findings concerning calcifications and brain malformations obtained from non-contrast computed tomography (CT) demonstrated good agreeme …
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Pirozzi F, Lee B, Horsley N, Burkardt DD, Dobyns WB, Graham JM Jr, Dentici ML, Cesario C, Schallner J, Porrmann J, Di Donato N, Sanchez-Lara PA, Mirzaa GM. Pirozzi F, et al. Am J Med Genet A. 2021 Sep;185(9):2719-2738. doi: 10.1002/ajmg.a.62362. Epub 2021 Jun 4. Am J Med Genet A. 2021. PMID: 34087052 Free PMC article. Review.
We identified five individuals from three unrelated families with novel variants in the proximal region of CCND2 associated with microcephaly, mildly simplified cortical gyral pattern, symmetric short stature, and mild developmental delay. ...
We identified five individuals from three unrelated families with novel variants in the proximal region of CCND2 associated with microcephal …
11 results