ArticleAJNR. American journal of neuroradiology
Congenital microcephaly with a simplified gyral pattern: associated findings and their significance.
Article in AJNR. American journal of neuroradiology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 70 citations in OpenAlex.
- Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in theMolecular syndromology · 2025Article
- Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family.Molecular biology reports · 2024Article
- Normal sulcation and gyration in neonatal cranial sonography from 24 weeks gestational age until term: a pictorial essay.Pediatric radiology · 2023Article
- RARS1-related developmental and epileptic encephalopathy.Epilepsia open · 2023Review
- A kinase-independent function of cyclin-dependent kinase 6 promotes outer radial glia expansion and neocortical folding.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies.Frontiers in genetics · 2022Article
- Measuring the Head Circumference on MRI in Children: an Interrater Study.Clinical neuroradiology · 2021Article
- Definitions and classification of malformations of cortical development: practical guidelines.Brain : a journal of neurology · 2020Review
- Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations.BMC medical genetics · 2019Article
- Normal early development in siblings with novel compound heterozygous variants inHuman genome variation · 2019Article
- DelineatingNeurology. Genetics · 2018Article
- Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.Pediatric research · 2018Article
- Nonmicrocephalic Infants with Congenital Zika Syndrome Suspected Only after Neuroimaging Evaluation Compared with Those with Microcephaly at Birth and Postnatally: How Large Is the Zika Virus "Iceberg"?AJNR. American journal of neuroradiology · 2017Article
- Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.American journal of human genetics · 2016Article
- Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.BMC neurology · 2016Article
- Cerebral cortex expansion and folding: what have we learned?The EMBO journal · 2016Review
- STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.Human genetics · 2015Article
- Morphological and functional aspects of progenitors perturbed in cortical malformations.Frontiers in cellular neuroscience · 2015Review
- Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.F1000Research · 2015Article
- Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.American journal of medical genetics. Part A · 2014Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 4 countries.
Funding
Abstract
background and purposePrimary microcephaly is an incompletely understood malformation that is often associated with developmental brain anomalies, yet whether the associated anomalies result from the microcephaly itself or from associated developmental/genetic mishaps is not yet understood. This study reviewed and analyzed a large number of MR imaging scans of children with microcephaly to determine the frequency of associated morphologic findings and to assess whether these findings were associated with the severity of the microcephaly. MATERIALS AND
methodsMR images of 119 patients with clinically diagnosed microcephaly were retrospectively reviewed, focusing on the degree of microcephaly, simplification of gyri, white matter volume, abnormalities of the corpus callosum, size and structure of posterior fossa contents, and myelination. Associations among the findings were evaluated by using the Spearman correlation coefficient and the Fisher exact test.
resultsAmong 7 patients with mild, 42 with moderate, and 70 with extreme microcephaly, a significant correlation was identified between a greater degree of microcephaly and both a greater degree of simplified gyration and decreased white matter volume. The severity of the callosal anomaly showed a lower but still significant correlation with the severity of microcephaly. Degree of hypoplasia of posterior fossa structures, delay in myelination, and abnormality of the basal ganglia did not correlate with the degree of microcephaly.
conclusionsA strong correlation was found between the degree of microcephaly, the volume of white matter, and the presence of a simplified gyral pattern. These associations should be considered when attempting to use neuroimaging for segregation and classification of patients with microcephaly.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.