{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T12:04:01Z","timestamp":1789646641071,"version":"4.0.0"},"reference-count":12,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,9,1]]},"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:p>\n                    Rauch-Steindl syndrome (RAUST) is a rare developmental disorder caused by pathogenic variants in the\n                    <jats:italic>NSD2<\/jats:italic>\n                    gene, typically characterised postnatally by microcephaly, growth restriction and developmental delay. We report the case of a fetus presenting at 24 weeks of gestation with severe microcephaly (head circumference&lt;1\u2009st centile), a transverse cerebellar diameter in the 20th centile, cystic changes in the temporal poles and fetal growth restriction. While quantitative fluorescent PCR and microarray analysis were normal, trio whole-exome sequencing (WES) identified a heterozygous de novo splice-site variant (NM_133330.3:c.760+1G&gt;C) in\n                    <jats:italic>NSD2<\/jats:italic>\n                    , classified as pathogenic. Prenatal MRI revealed brain biometry below the first centile and cystic changes in the temporal poles. The pregnancy resulted in a live birth at 38 weeks; the neonate was small-for-gestational-age with microcephaly but lacked major facial dysmorphisms. This report expands the known phenotypic spectrum of RAUST to the prenatal period, characterised by early-onset microcephaly, growth restriction and temporal polar cysts.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2026-274853","type":"journal-article","created":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T11:25:20Z","timestamp":1789644320000},"page":"e274853","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Rauch-Steindl syndrome: intrauterine phenotype and diagnostic utility of prenatal exome sequencing"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-7277-0674","authenticated-orcid":false,"given":"Cl\u00e1udia","family":"Rijo","sequence":"first","affiliation":[{"name":"Department of Fetal Medicine and Surgery, Unidade Local de Sa\u00fade S\u00e3o Jos\u00e9, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Carocha","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine and Surgery, Unidade Local de Sa\u00fade S\u00e3o Jos\u00e9, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00eas","family":"Freire","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, Unidade Local de Sa\u00fade S\u00e3o Jos\u00e9, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Martins","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Unidade Local de Sa\u00fade S\u00e3o Jos\u00e9, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Jo\u00e3o","family":"S\u00e1","sequence":"additional","affiliation":[{"name":"University of Porto Institute for Molecular and Cell Biology, Porto, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margarida","family":"Ven\u00e2ncio","sequence":"additional","affiliation":[{"name":"Genetic Department, Unidade Local de Sa\u00fade S\u00e3o Jos\u00e9, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1lvaro","family":"Cohen","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine and Surgery, Unidade Local de Sa\u00fade S\u00e3o Jos\u00e9, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,9,17]]},"reference":[{"key":"2026091704251046000_19.9.e274853.1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01158-1"},{"key":"2026091704251046000_19.9.e274853.2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2026091704251046000_19.9.e274853.3","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6115"},{"key":"2026091704251046000_19.9.e274853.4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61406"},{"key":"2026091704251046000_19.9.e274853.5","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/cge.14181","article-title":"Disorders of histone methylation: Molecular basis and clinical syndromes","volume":"102","author":"Al Ojaimi","year":"2022","journal-title":"Clin Genet"},{"key":"2026091704251046000_19.9.e274853.6","doi-asserted-by":"crossref","first-page":"2748","DOI":"10.1002\/ajmg.a.62341","article-title":"The delineation of the Wolf-Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology","volume":"185","author":"Battaglia","year":"2021","journal-title":"Am J Med Genet A"},{"key":"2026091704251046000_19.9.e274853.7","first-page":"48265","article-title":"Cytogenomic integrative network analysis of the critical region associated with Wolf-Hirschhorn syndrome","volume":"57","author":"Corr\u00eaa","year":"2017","journal-title":"BioMed Res Int"},{"key":"2026091704251046000_19.9.e274853.8","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s00404-018-4798-1","article-title":"Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling","volume":"298","author":"Xing","year":"2018","journal-title":"Arch Gynecol Obstet"},{"key":"2026091704251046000_19.9.e274853.9","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.2396","article-title":"Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants","volume":"12","author":"Nishi","year":"2024","journal-title":"Mol Genet Genomic Med"},{"key":"2026091704251046000_19.9.e274853.10","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2023.1064783","article-title":"Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome","volume":"11","author":"Yang","year":"2023","journal-title":"Front Pediatr"},{"key":"2026091704251046000_19.9.e274853.11","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s12883-026-04649-3","article-title":"A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report","volume":"26","author":"Zhu","year":"2026","journal-title":"BMC Neurol"},{"key":"2026091704251046000_19.9.e274853.12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.1994.tb13007.x"}],"container-title":["BMJ Case 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