{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,15]],"date-time":"2025-08-15T01:56:21Z","timestamp":1755222981253,"version":"3.43.0"},"reference-count":24,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,4,21]],"date-time":"2025-04-21T00:00:00Z","timestamp":1745193600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Lateral meningocele syndrome is a rare skeletal syndrome caused by truncating variants in the final exon of the <jats:italic>NOTCH3<\/jats:italic> gene. It is characterized by multiple lateral meningoceles that may result in neurological sequelae. A wider systemic phenotype has been demonstrated, including musculoskeletal abnormalities, feeding difficulties, structural cardiac and renal anomalies, and facial dysmorphism. We describe the clinical details of a child who was initially diagnosed with Copenhagen syndrome (progressive non\u2010infectious anterior vertebral body fusion), based on radiological findings, in the context of kyphosis and back pain. Later, a novel <jats:italic>de novo<\/jats:italic> c.6723_6736del p.(Glu2241AspfsTer8) <jats:italic>NOTCH3<\/jats:italic> variant was identified from the 100,000 Genomes Project, in keeping with a genetic diagnosis of lateral meningocele syndrome. Without the context of additional features that may point toward an underlying syndrome, radiological findings\u2014when reviewed in isolation\u2014may be suggestive of alternate diagnoses. In this case, the radiological finding of anterior vertebral fusion suggested Copenhagen syndrome, whereas the identification of dural ectasia prompted further investigation into Ehlers\u2010Danlos syndrome subtypes. Recognition of dysmorphology prompted wider investigation by Whole Genome Sequencing. Features of lateral meningocele syndrome significantly overlap with those of connective tissue disorders including EDS, Marfan syndrome, and Loeys\u2010Dietz syndrome. We describe the clinical features of the here\u2010reported proband with a novel <jats:italic>NOTCH3<\/jats:italic> variant, and compare the phenotypes of these differential diagnoses.<\/jats:p>","DOI":"10.1002\/ajmg.a.64091","type":"journal-article","created":{"date-parts":[[2025,4,21]],"date-time":"2025-04-21T05:08:11Z","timestamp":1745212091000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp><i>NOTCH3<\/i><\/scp>\u2010Related Lateral Meningocele Syndrome Presenting as Radiological Copenhagen Syndrome"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2349-2688","authenticated-orcid":false,"given":"Emily","family":"Woods","sequence":"first","affiliation":[{"name":"Sheffield Clinical Genetics Service Sheffield Children's Hospital  Sheffield UK"},{"name":"Division of Clinical Medicine, School of Medicine and Population Health University of Sheffield  Sheffield UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Jordaan","sequence":"additional","affiliation":[{"name":"Sheffield Clinical Genetics Service Sheffield Children's Hospital  Sheffield UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amaka C.","family":"Offiah","sequence":"additional","affiliation":[{"name":"Division of Clinical Medicine, School of Medicine and Population Health University of Sheffield  Sheffield UK"},{"name":"Department of Radiology Sheffield Children's Hospital  Sheffield UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Johnston","sequence":"additional","affiliation":[{"name":"Sheffield Diagnostic Genetics Service Sheffield Children's Hospital  Sheffield UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. 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