{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,23]],"date-time":"2025-05-23T16:49:26Z","timestamp":1748018966700,"version":"3.37.3"},"reference-count":15,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Foramina parietalia permagna (FPP) is a rare anatomical defect that affects the parietal bones of the human skull. FPP is characterized by symmetric perforations on either side of the skull, which are caused by insufficient ossification during embryogenesis. These openings are typically abnormally large and can range from a few millimeters to several centimeters in diameter. Enlarged foramina are often discovered incidentally during anatomical or radiological examinations and in most cases left untreated unless symptoms develop. Although this calvarial defect is usually asymptomatic, it may be accompanied by neurological or vascular conditions that can have clinical significance in certain cases. FPP is an inherited disorder and arises due to mutations in either Msh homeobox 2 (MSX2) or aristaless-like homeobox 4 (ALX4) genes. In almost all cases, one parent is affected. Clinical findings and diagnostic imaging typically contribute to determine the diagnosis.<\/jats:p>","DOI":"10.1055\/s-0044-1781465","type":"journal-article","created":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T00:37:01Z","timestamp":1709771821000},"page":"205-208","source":"Crossref","is-referenced-by-count":1,"title":["Bilateral Foramina Parietalia Permagna \u2013 A Calvarial Defect Caused by Haploinsufficiency of the Msh Homeobox 2 Gene: A Case Report and Current Literature Review"],"prefix":"10.1055","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-1030-4524","authenticated-orcid":false,"given":"Niklas","family":"Kahl","sequence":"additional","affiliation":[{"name":"Division of Neurology, Neurometabolics and Prevention, Department of Pediatrics, Goethe University Frankfurt, Frankfurt, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"L\u00fcsebrink","sequence":"additional","affiliation":[{"name":"Division of Neurology, Neurometabolics and Prevention, Department of Pediatrics, Goethe University Frankfurt, Frankfurt, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1545-7364","authenticated-orcid":false,"given":"Susanne","family":"Schubert-Bast","sequence":"additional","affiliation":[{"name":"Division of Neurology, Neurometabolics and Prevention, Department of Pediatrics, Goethe University Frankfurt, Frankfurt, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas M.","family":"Freiman","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Rostock University Medical Center, Rostock, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Kieslich","sequence":"additional","affiliation":[{"name":"Division of Neurology, Neurometabolics and Prevention, Department of Pediatrics, Goethe University Frankfurt, Frankfurt, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2024,3,6]]},"reference":[{"issue":"01","key":"ref1","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/ajmg.a.30923","article-title":"A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP)","volume":"139","author":"L Spruijt","year":"2005","journal-title":"Am J Med Genet A"},{"issue":"06","key":"ref2","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/j.ajodo.2006.02.020","article-title":"Hereditary cranium bifidum persisting as enlarged parietal foramina (Catlin marks) on cephalometric radiographs","volume":"129","author":"M Mupparapu","year":"2006","journal-title":"Am J Orthod Dentofacial Orthop"},{"issue":"04","key":"ref3","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1007\/s00381-012-1982-7","article-title":"Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment","volume":"29","author":"C J Griessenauer","year":"2013","journal-title":"Childs Nerv Syst"},{"issue":"04","key":"ref4","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1097\/00001665-200307000-00028","article-title":"Surgical management of foramina parietalia permagna","volume":"14","author":"B Kortesis","year":"2003","journal-title":"J Craniofac Surg"},{"issue":"05","key":"ref5","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1212\/WNL.54.5.1175","article-title":"Enlarged parietal foramina: association with cerebral venous and cortical anomalies","volume":"54","author":"A T Reddy","year":"2000","journal-title":"Neurology"},{"issue":"04","key":"ref6","doi-asserted-by":"crossref","first-page":"487","DOI":"10.3171\/jns.1972.37.4.0487","article-title":"Evolution and significance of giant parietal foramina. 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