{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T14:12:20Z","timestamp":1770819140575,"version":"3.50.1"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T00:00:00Z","timestamp":1747094400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T00:00:00Z","timestamp":1747094400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Childs Nerv Syst"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1007\/s00381-025-06846-w","type":"journal-article","created":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T07:21:52Z","timestamp":1747120912000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A \u201cSmurf-Cap\u201d head requiring total cranial vault reshaping. A novel syndromic presentation of craniofrontonasal dysplasia associated with spina bifida"],"prefix":"10.1007","volume":"41","author":[{"given":"Maria","family":"Fragale","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Giordano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raul Della","family":"Valle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Canzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Talamonti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,5,13]]},"reference":[{"key":"6846_CR1","first-page":"323","volume-title":"Pediatric Neurosurgery","author":"E Arnaud","year":"1999","unstructured":"Arnaud E, Lajeunie E, Marchac D, Renier D (1999) Craniofacial anomalies. In: Choux M, Di Rocco C, Hockley A, Walker M (eds) Pediatric Neurosurgery. Churchill Livingstone, London, pp 323\u2013346"},{"issue":"2","key":"6846_CR2","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1016\/j.pediatrneurol.2010.10.012","volume":"44","author":"DI Zafeiriou","year":"2011","unstructured":"Zafeiriou DI, Pavlidou EL, Varg\u00ecami E (2011) Diverse clinical and genetic aspects of craniofrontonasal syndrome. Pediatr Neurol 44(2):83\u201387. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2010.10.012","journal-title":"Pediatr Neurol"},{"issue":"2","key":"6846_CR3","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1002\/(SICI)1096-8628(19960111)61:2<147::AID-AJMG8>3.0.CO;2-U","volume":"61","author":"D Saavedra","year":"1996","unstructured":"Saavedra D, Richieri-Costa A, Guion-Almeida ML, Cohen MM Jr (1996) Craniofrontonasal syndrome: study of 41 patients. Am J Med Genet 61(2):147\u2013151. https:\/\/doi.org\/10.1002\/(SICI)1096-8628(19960111)61:2%3c147::AID-AJMG8%3e3.0.CO;2-U","journal-title":"Am J Med Genet"},{"issue":"7","key":"6846_CR4","doi-asserted-by":"publisher","first-page":"884","DOI":"10.1038\/sj.ejhg.5201633","volume":"14","author":"PC Vasudevan","year":"2006","unstructured":"Vasudevan PC, Twigg SR, Mulliken JB, Cook JA, Quarrell OW, Wilkie AO (2006) Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. Eur J Hum Genet 14(7):884\u2013887. https:\/\/doi.org\/10.1038\/sj.ejhg.5201633","journal-title":"Eur J Hum Genet"},{"issue":"10","key":"6846_CR5","doi-asserted-by":"publisher","first-page":"2574","DOI":"10.1002\/ajmg.a.33596","volume":"152A","author":"J Hogue","year":"2010","unstructured":"Hogue J, Shankar S, Perry H, Patel R, Vargervik K, Slavotinek A (2010) A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. Am J Med Genet A. 152A(10):2574\u20132577. https:\/\/doi.org\/10.1002\/ajmg.a.33596","journal-title":"Am J Med Genet A."},{"issue":"1","key":"6846_CR6","first-page":"1","volume":"18","author":"P Derome","year":"1972","unstructured":"Derome P (1972) Les tumeurs sph\u00e9no-ethmo\u00efdales. Possibilit\u00e9s d\u2019ex\u00e9r\u00e8se et de r\u00e9paration chirurgicales [Spheno-ethmoidal tumors. Possibilities for exeresis and surgical repair]. Neurochirurgie. 18(1):1\u2013164","journal-title":"Neurochirurgie."},{"issue":"23","key":"6846_CR7","doi-asserted-by":"publisher","first-page":"8652","DOI":"10.1073\/pnas.0402819101","volume":"101","author":"SR Twigg","year":"2004","unstructured":"Twigg SR, Kan R, Babbs C et al (2004) Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci U S A 101(23):8652\u20138657. https:\/\/doi.org\/10.1073\/pnas.0402819101","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"3","key":"6846_CR8","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1159\/000091862","volume":"42","author":"PK Nayak","year":"2006","unstructured":"Nayak PK, Mahapatra AK (2006) Frontal bone agenesis in a patient of spinal dysraphism. Pediatr Neurosurg 42(3):171\u2013173. https:\/\/doi.org\/10.1159\/000091862","journal-title":"Pediatr Neurosurg"},{"issue":"6","key":"6846_CR9","doi-asserted-by":"publisher","first-page":"999","DOI":"10.1086\/504440","volume":"78","author":"SR Twigg","year":"2006","unstructured":"Twigg SR, Matsumoto K, Kidd AM et al (2006) The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Am J Hum Genet 78(6):999\u20131010. https:\/\/doi.org\/10.1086\/504440","journal-title":"Am J Hum Genet"},{"issue":"6","key":"6846_CR10","doi-asserted-by":"publisher","first-page":"952","DOI":"10.3390\/genes13060952.PMID:35741713;PMCID:PMC9222557","volume":"13","author":"SW Mohd-Zin","year":"2022","unstructured":"Mohd-Zin SW, Tan ACW, Atroosh WM, Thong MK, Azizi AB, Greene NDE, Abdul-Aziz NM (2022) Eph and Ephrin Variants in Malaysian neural tube defect families. Genes (Basel) 13(6):952. https:\/\/doi.org\/10.3390\/genes13060952.PMID:35741713;PMCID:PMC9222557","journal-title":"Genes (Basel)"},{"issue":"24","key":"6846_CR11","doi-asserted-by":"publisher","first-page":"3882","DOI":"10.3390\/ani13243882","volume":"13","author":"S Marc","year":"2023","unstructured":"Marc S, Savici J, Sicoe B, Boldura OM, Paul C, Otav\u0103 G (2023) Exencephaly-anencephaly sequence associated with maxillary brachygnathia, spinal defects, and palatoschisis in a male domestic cat. Animals (Basel) 13(24):3882. https:\/\/doi.org\/10.3390\/ani13243882","journal-title":"Animals (Basel)"},{"issue":"5","key":"6846_CR12","doi-asserted-by":"publisher","first-page":"584","DOI":"10.3171\/2018.5.PEDS17582","volume":"22","author":"MD Cearns","year":"2018","unstructured":"Cearns MD, Hettige S, De Coppi P, Thompson DNP (2018) Currarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach. J Neurosurg Pediatr 22(5):584\u2013590. https:\/\/doi.org\/10.3171\/2018.5.PEDS17582","journal-title":"J Neurosurg Pediatr"},{"issue":"6","key":"6846_CR13","doi-asserted-by":"publisher","first-page":"626","DOI":"10.3171\/2010.2.PEDS09502","volume":"5","author":"SF Oliveria","year":"2010","unstructured":"Oliveria SF, Thompson EM, Selden NR (2010) Lumbar lipomyelomeningocele and sacrococcygeal teratoma in siblings: support for an alternative theory of spinal teratoma formation. J Neurosurg Pediatr 5(6):626\u2013629. https:\/\/doi.org\/10.3171\/2010.2.PEDS09502","journal-title":"J Neurosurg Pediatr"},{"issue":"10","key":"6846_CR14","doi-asserted-by":"publisher","first-page":"2082","DOI":"10.1242\/dev.088203","volume":"140","author":"DN Arvanitis","year":"2013","unstructured":"Arvanitis DN, B\u00e9har A, Tryoen-T\u00f3th P et al (2013) Ephrin B1 maintains apical adhesion of neural progenitors. Development 140(10):2082\u20132092. https:\/\/doi.org\/10.1242\/dev.088203","journal-title":"Development"},{"issue":"10","key":"6846_CR15","doi-asserted-by":"publisher","first-page":"e315","DOI":"10.1371\/journal.pbio.0040315","volume":"4","author":"A Davy","year":"2006","unstructured":"Davy A, Bush JO, Soriano P (2006) Inhibition of gap junction communication at ectopic Eph\/ephrin boundaries underlies craniofrontonasal syndrome. PLoS Biol 4(10):e315. https:\/\/doi.org\/10.1371\/journal.pbio.0040315","journal-title":"PLoS Biol"},{"issue":"1\u20132","key":"6846_CR16","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1002\/(SICI)1520-6408(1999)24:1\/2<33::AID-DVG5>3.0.CO;2-F","volume":"24","author":"DL Becker","year":"1999","unstructured":"Becker DL, McGonnell I, Makarenkova HP et al (1999) Roles for alpha 1 connexin in morphogenesis of chick embryos revealed using a novel antisense approach. Dev Genet 24(1\u20132):33\u201342. https:\/\/doi.org\/10.1002\/(SICI)1520-6408(1999)24:1\/2%3c33::AID-DVG5%3e3.0.CO;2-F","journal-title":"Dev Genet"},{"issue":"8","key":"6846_CR17","doi-asserted-by":"publisher","first-page":"2038","DOI":"10.1097\/SCS.0000000000004716","volume":"29","author":"G Canzi","year":"2018","unstructured":"Canzi G, Talamonti G, Mazzoleni F, Bozzetti A, Sozzi D (2018) Homologous Banked Bone Grafts for the Reconstruction of Large Cranial Defects in Pediatric Patients. J Craniofac Surg 29(8):2038\u20132042. https:\/\/doi.org\/10.1097\/SCS.0000000000004716","journal-title":"J Craniofac Surg"},{"issue":"3","key":"6846_CR18","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1159\/000496694","volume":"54","author":"G Talamonti","year":"2019","unstructured":"Talamonti G, Cris\u00e0 F, Canzi G (2019) Transplant of Adult Bone for Reconstruction of a Large Post-Traumatic Cranial Defect in a Very Young Baby. Pediatr Neurosurg 54(3):218\u2013222. https:\/\/doi.org\/10.1159\/000496694","journal-title":"Pediatr Neurosurg"},{"key":"6846_CR19","doi-asserted-by":"publisher","first-page":"E17","DOI":"10.1016\/j.jpedsurg.2010.01.011","volume":"45","author":"BC Brevi","year":"2010","unstructured":"Brevi BC, Magri AS, Toma L et al (2010) Cranioplasty for repair of a large bone defect with autologous and homologous bone in children. J Pediatr Surg 45:E17-20","journal-title":"J Pediatr Surg"},{"key":"6846_CR20","doi-asserted-by":"publisher","first-page":"1631","DOI":"10.1097\/PRS.0b013e31821084f0","volume":"127","author":"GF Rogers","year":"2011","unstructured":"Rogers GF, Greene AK, Mulliken JB et al (2011) Exchange cranioplasty using autologous calvarial particulate bone graft effectively repairs large cranial defects. Plast Reconstr Surg 127:1631\u20131642","journal-title":"Plast Reconstr Surg"}],"container-title":["Child's Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00381-025-06846-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00381-025-06846-w","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00381-025-06846-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T13:18:13Z","timestamp":1770815893000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00381-025-06846-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,13]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["6846"],"URL":"https:\/\/doi.org\/10.1007\/s00381-025-06846-w","relation":{},"ISSN":["0256-7040","1433-0350"],"issn-type":[{"value":"0256-7040","type":"print"},{"value":"1433-0350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,13]]},"assertion":[{"value":"5 December 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 May 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 May 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"179"}}