ArticleNeurology. Genetics2024
Novel Genetic Variant in
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Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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11 authors.
Mario TortoraFrom the Department of Pediatric Radiology and Neuroradiology (M.T., A.R., C.D.); Clinical Genetics Unit (E.C.), Department of Pediatrics; Clinical Genetics Unit (L.S.), Department of Obstetrics and Gynecology, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Medical Genetics Laboratory (M.I.), Hospital Papa Giovanni XXIII, Bergamo; Pediatric Neurology Unit (B.S.), Department of Pediatrics, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Translational Cytogenomics Research Unit (A.M., A.N.), IRCCS Bambino Gesù Pediatric Hospital, Rome; Fetal Therapy Unit "U. Nicolini" (M.L.), Department of Obstetrics and Gynecology, Buzzi Childrens' Hospital, Milan; and Pediatric Neurology Unit (P.V.), "Vittore Buzzi" Children's Hospital, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Italy.ORCID https://orcid.org/0000-0002-4745-3061
Elisa CattaneoFrom the Department of Pediatric Radiology and Neuroradiology (M.T., A.R., C.D.); Clinical Genetics Unit (E.C.), Department of Pediatrics; Clinical Genetics Unit (L.S.), Department of Obstetrics and Gynecology, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Medical Genetics Laboratory (M.I.), Hospital Papa Giovanni XXIII, Bergamo; Pediatric Neurology Unit (B.S.), Department of Pediatrics, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Translational Cytogenomics Research Unit (A.M., A.N.), IRCCS Bambino Gesù Pediatric Hospital, Rome; Fetal Therapy Unit "U. Nicolini" (M.L.), Department of Obstetrics and Gynecology, Buzzi Childrens' Hospital, Milan; and Pediatric Neurology Unit (P.V.), "Vittore Buzzi" Children's Hospital, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Italy.
Luigina SpacciniFrom the Department of Pediatric Radiology and Neuroradiology (M.T., A.R., C.D.); Clinical Genetics Unit (E.C.), Department of Pediatrics; Clinical Genetics Unit (L.S.), Department of Obstetrics and Gynecology, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Medical Genetics Laboratory (M.I.), Hospital Papa Giovanni XXIII, Bergamo; Pediatric Neurology Unit (B.S.), Department of Pediatrics, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Translational Cytogenomics Research Unit (A.M., A.N.), IRCCS Bambino Gesù Pediatric Hospital, Rome; Fetal Therapy Unit "U. Nicolini" (M.L.), Department of Obstetrics and Gynecology, Buzzi Childrens' Hospital, Milan; and Pediatric Neurology Unit (P.V.), "Vittore Buzzi" Children's Hospital, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Italy.
Maria IasconeFrom the Department of Pediatric Radiology and Neuroradiology (M.T., A.R., C.D.); Clinical Genetics Unit (E.C.), Department of Pediatrics; Clinical Genetics Unit (L.S.), Department of Obstetrics and Gynecology, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Medical Genetics Laboratory (M.I.), Hospital Papa Giovanni XXIII, Bergamo; Pediatric Neurology Unit (B.S.), Department of Pediatrics, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Translational Cytogenomics Research Unit (A.M., A.N.), IRCCS Bambino Gesù Pediatric Hospital, Rome; Fetal Therapy Unit "U. Nicolini" (M.L.), Department of Obstetrics and Gynecology, Buzzi Childrens' Hospital, Milan; and Pediatric Neurology Unit (P.V.), "Vittore Buzzi" Children's Hospital, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Italy.ORCID https://orcid.org/0000-0002-4707-212X
Barbara ScelsaFrom the Department of Pediatric Radiology and Neuroradiology (M.T., A.R., C.D.); Clinical Genetics Unit (E.C.), Department of Pediatrics; Clinical Genetics Unit (L.S.), Department of Obstetrics and Gynecology, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Medical Genetics Laboratory (M.I.), Hospital Papa Giovanni XXIII, Bergamo; Pediatric Neurology Unit (B.S.), Department of Pediatrics, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Translational Cytogenomics Research Unit (A.M., A.N.), IRCCS Bambino Gesù Pediatric Hospital, Rome; Fetal Therapy Unit "U. Nicolini" (M.L.), Department of Obstetrics and Gynecology, Buzzi Childrens' Hospital, Milan; and Pediatric Neurology Unit (P.V.), "Vittore Buzzi" Children's Hospital, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Italy.ORCID https://orcid.org/0000-0003-3984-0077
Alessia MicalizziFrom the Department of Pediatric Radiology and Neuroradiology (M.T., A.R., C.D.); Clinical Genetics Unit (E.C.), Department of Pediatrics; Clinical Genetics Unit (L.S.), Department of Obstetrics and Gynecology, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Medical Genetics Laboratory (M.I.), Hospital Papa Giovanni XXIII, Bergamo; Pediatric Neurology Unit (B.S.), Department of Pediatrics, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Translational Cytogenomics Research Unit (A.M., A.N.), IRCCS Bambino Gesù Pediatric Hospital, Rome; Fetal Therapy Unit "U. Nicolini" (M.L.), Department of Obstetrics and Gynecology, Buzzi Childrens' Hospital, Milan; and Pediatric Neurology Unit (P.V.), "Vittore Buzzi" Children's Hospital, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Italy.
Antonio NovelliFrom the Department of Pediatric Radiology and Neuroradiology (M.T., A.R., C.D.); Clinical Genetics Unit (E.C.), Department of Pediatrics; Clinical Genetics Unit (L.S.), Department of Obstetrics and Gynecology, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Medical Genetics Laboratory (M.I.), Hospital Papa Giovanni XXIII, Bergamo; Pediatric Neurology Unit (B.S.), Department of Pediatrics, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Translational Cytogenomics Research Unit (A.M., A.N.), IRCCS Bambino Gesù Pediatric Hospital, Rome; Fetal Therapy Unit "U. Nicolini" (M.L.), Department of Obstetrics and Gynecology, Buzzi Childrens' Hospital, Milan; and Pediatric Neurology Unit (P.V.), "Vittore Buzzi" Children's Hospital, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Italy.ORCID https://orcid.org/0000-0002-9037-4297
Mariano LannaFrom the Department of Pediatric Radiology and Neuroradiology (M.T., A.R., C.D.); Clinical Genetics Unit (E.C.), Department of Pediatrics; Clinical Genetics Unit (L.S.), Department of Obstetrics and Gynecology, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Medical Genetics Laboratory (M.I.), Hospital Papa Giovanni XXIII, Bergamo; Pediatric Neurology Unit (B.S.), Department of Pediatrics, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Translational Cytogenomics Research Unit (A.M., A.N.), IRCCS Bambino Gesù Pediatric Hospital, Rome; Fetal Therapy Unit "U. Nicolini" (M.L.), Department of Obstetrics and Gynecology, Buzzi Childrens' Hospital, Milan; and Pediatric Neurology Unit (P.V.), "Vittore Buzzi" Children's Hospital, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Italy.
Andrea RighiniFrom the Department of Pediatric Radiology and Neuroradiology (M.T., A.R., C.D.); Clinical Genetics Unit (E.C.), Department of Pediatrics; Clinical Genetics Unit (L.S.), Department of Obstetrics and Gynecology, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Medical Genetics Laboratory (M.I.), Hospital Papa Giovanni XXIII, Bergamo; Pediatric Neurology Unit (B.S.), Department of Pediatrics, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Translational Cytogenomics Research Unit (A.M., A.N.), IRCCS Bambino Gesù Pediatric Hospital, Rome; Fetal Therapy Unit "U. Nicolini" (M.L.), Department of Obstetrics and Gynecology, Buzzi Childrens' Hospital, Milan; and Pediatric Neurology Unit (P.V.), "Vittore Buzzi" Children's Hospital, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Italy.
Pierangelo VeggiottiFrom the Department of Pediatric Radiology and Neuroradiology (M.T., A.R., C.D.); Clinical Genetics Unit (E.C.), Department of Pediatrics; Clinical Genetics Unit (L.S.), Department of Obstetrics and Gynecology, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Medical Genetics Laboratory (M.I.), Hospital Papa Giovanni XXIII, Bergamo; Pediatric Neurology Unit (B.S.), Department of Pediatrics, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Translational Cytogenomics Research Unit (A.M., A.N.), IRCCS Bambino Gesù Pediatric Hospital, Rome; Fetal Therapy Unit "U. Nicolini" (M.L.), Department of Obstetrics and Gynecology, Buzzi Childrens' Hospital, Milan; and Pediatric Neurology Unit (P.V.), "Vittore Buzzi" Children's Hospital, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Italy.ORCID https://orcid.org/0000-0003-2851-3441
Chiara DonedaFrom the Department of Pediatric Radiology and Neuroradiology (M.T., A.R., C.D.); Clinical Genetics Unit (E.C.), Department of Pediatrics; Clinical Genetics Unit (L.S.), Department of Obstetrics and Gynecology, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Medical Genetics Laboratory (M.I.), Hospital Papa Giovanni XXIII, Bergamo; Pediatric Neurology Unit (B.S.), Department of Pediatrics, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Translational Cytogenomics Research Unit (A.M., A.N.), IRCCS Bambino Gesù Pediatric Hospital, Rome; Fetal Therapy Unit "U. Nicolini" (M.L.), Department of Obstetrics and Gynecology, Buzzi Childrens' Hospital, Milan; and Pediatric Neurology Unit (P.V.), "Vittore Buzzi" Children's Hospital, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Italy.ORCID https://orcid.org/0000-0001-8707-6312
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objectives: To provide a comprehensive description of neuroradiologic findings in a patient with a probable pathogenic variant of Methods: We first report prenatal and postnatal neuroradiologic phenotype of a female patient carrying a Results: An ultrasound shows borderline ventriculomegaly, rotated cerebellar vermis, and dysgenetic corpus callosum. An MR study identify a short, thin corpus callosum, falcine sinus persistence, reduced cerebellar vermis size, wide inferior IV ventricle, and reduced pontine bulging. Discussion:
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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 Socratic graph.