{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,18]],"date-time":"2025-06-18T04:03:42Z","timestamp":1750219422687,"version":"3.41.0"},"reference-count":17,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T00:00:00Z","timestamp":1673222400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neonatology"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:p>\n            Pathogenic variants in the X-linked\n            <jats:italic>FLNA<\/jats:italic>\n            gene encoding filamin A cause a wide range of manifestations, such as periventricular nodular heterotopia (PNH), cardiovascular malformations, connective tissue disorders, and pulmonary involvement with progressive lung disease and variable clinical outcomes ranging from lung transplantation to death.\n          <\/jats:p>\n          <jats:p>\n            We report a case of a term female newborn with patent ductus arteriosus (PDA) and unexplained respiratory distress in whom cranial ultrasound (cUS) was suggestive of PNH. Brain magnetic resonance imaging confirmed PNH and\n            <jats:italic>FLNA<\/jats:italic>\n            gene analysis identified a novel heterozygous pathogenic variant, c.3951C&gt;G (p.Tyr1317Ter). She had complete resolution of her respiratory disease and spontaneous closure of her ductus arteriosus around 10 months. Since then, she developed chronic constipation and joint hypermobility.\n          <\/jats:p>\n          <jats:p>Early recognition of cUS clues for PNH, associated with PDA and pulmonary involvement in a female newborn, guided genetic testing, allowing for a correct diagnosis and multidisciplinary surveillance of this heterogeneous disorder. We also highlight the good clinical outcome concerning lung involvement in contrast with cases reported in the literature.<\/jats:p>","DOI":"10.1177\/09732179221142966","type":"journal-article","created":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T10:14:55Z","timestamp":1673259295000},"page":"277-281","source":"Crossref","is-referenced-by-count":1,"title":["Periventricular Heterotopia and Novel\n            <i>FLNA<\/i>\n            Gene Variant: Clinical and Neuroimaging Clues for an Early Diagnosis"],"prefix":"10.1177","volume":"37","author":[{"given":"Ana","family":"Vilan","sequence":"first","affiliation":[{"name":"Department of Neonatology, Centro Hospitalar e Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"},{"name":"Faculty of Medicine, University of Porto, Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8385-5041","authenticated-orcid":false,"given":"Margarida Vicente","family":"-Ferreira","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Centro Hospitalar e Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"},{"name":"Faculty of Medicine, University of Porto, Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6914-3868","authenticated-orcid":false,"given":"Marisa","family":"Pereira","sequence":"additional","affiliation":[{"name":"Department of Paediatric Cardiology, Centro Hospitalar e Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Lu\u00edsa","family":"Sampaio","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, Centro Hospitalar e Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"},{"name":"Faculty of Medicine, University of Porto, Porto, Portugal"}]},{"given":"Ana","family":"Grangeia","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Centro Hospitalar e Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"},{"name":"Faculty of Medicine, University of Porto, Porto, Portugal"}]}],"member":"179","published-online":{"date-parts":[[2023,1,9]]},"reference":[{"key":"e_1_3_6_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2017.03.005"},{"key":"e_1_3_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80651-0"},{"key":"e_1_3_6_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl125"},{"key":"e_1_3_6_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.209"},{"key":"e_1_3_6_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0331-9"},{"key":"e_1_3_6_7_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-02128-1"},{"key":"e_1_3_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2018.01.010"},{"key":"e_1_3_6_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-018-3301-0"},{"issue":"12","key":"e_1_3_6_10_2","first-page":"773","article-title":"Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome","volume":"61","author":"Deloison B","year":"2018","unstructured":"Deloison B, , Sonigo P, , Millischer-Bellaiche AE. . Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome. Eur J Hum Genet. 2018;61(12):773\u2013782.","journal-title":"Eur J Hum Genet"},{"key":"e_1_3_6_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12340"},{"key":"e_1_3_6_12_2","doi-asserted-by":"publisher","DOI":"10.4102\/sajr.v14i1.439"},{"key":"e_1_3_6_13_2","article-title":"Cardiovascular, brain, and lung involvement in a newborn with a novel FLNA mutation: A case Rreport and literature review","author":"Meliota G","year":"2021","unstructured":"Meliota G, , Vairo U, , Ficarella R, , Milella L, , Faienza MF, , D\u2019Amato G. Cardiovascular, brain, and lung involvement in a newborn with a novel FLNA mutation: A case Rreport and literature review. 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