{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T00:53:31Z","timestamp":1792284811901,"version":"4.4.0"},"reference-count":50,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,10]]},"abstract":"\n \n Object<\/jats:italic>\n <\/jats:title>\n The origins of both sagittal synostosis (scaphocephaly) and metopic synostosis (trigonocephaly) remain unclear. Genetic and environmental factors probably play a role. Twin and family data of patients with these conditions are presented.<\/jats:p>\n <\/jats:sec>\n \n \n Methods<\/jats:italic>\n <\/jats:title>\n Records of 860 patients with scaphocephaly and 394 with trigonocephaly were examined for prevalence of twin birth and family history. Concordance rates of disease in monozygotic (MZ) and dizygotic (DZ) twins were compared.<\/jats:p>\n \n A family history of disease was present in 5.7% of children with scaphocephaly and in 6.8% with trigonocephaly. The frequency of twins was 4.2% in sagittal synostosis and 6.8% in metopic synostosis, which is higher than in the normal population. Twenty-eight of 38 twin pairs with a scaphocephalic proband were identified to be DZ and 10 were confirmed to be MZ (MZ\/DZ ratio 0.36). Twenty of 27 twin pairs with trigonocephaly were DZ and seven were MZ (MZ\/DZ ratio 0.35). Concordance rates were higher in the MZ group, 30% for scaphocephaly and 43% for trigonocephaly (\u03c7\n 2<\/jats:sup>\n = 14.4091, p = 0.0001). There was a strong prevalence of boys, with a frequency of 79.1% with scaphocephaly and 75.8% with trigonocephaly. Twinning was more frequent among affected boys in both groups.\n <\/jats:p>\n <\/jats:sec>\n \n \n Conclusions<\/jats:italic>\n <\/jats:title>\n A midline craniosynostosis is more likely to develop in twins compared with singletons. A genetic component is supported by the higher risk in MZ twins. The presence of an environmental component is reinforced by the high rate of twinning, the normal MZ\/DZ ratio, and a less than 100% concordance rate in MZ twins.<\/jats:p>\n <\/jats:sec>","DOI":"10.3171\/ped.2005.103.4.0353","type":"journal-article","created":{"date-parts":[[2010,8,27]],"date-time":"2010-08-27T06:02:54Z","timestamp":1282888974000},"page":"353-356","source":"Crossref","is-referenced-by-count":24,"title":["Genetic considerations in nonsyndromic midline craniosynostoses: a study of twins and their families"],"prefix":"10.3171","volume":"103","author":[{"given":"Elizabeth","family":"Lajeunie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darach William","family":"Crimmins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Arnaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Renier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1754","reference":[{"key":"b1","series-title":"Teratology","first-page":"13","article-title":"Increased risk of craniosynostosis with maternal cigarette smoking during pregnancy.","volume":"50","author":"Alderman","year":"1994"},{"key":"b2","series-title":"Epidemiology","first-page":"306","article-title":"Parental occupations as risk factors for craniosynostosis in offspring.","volume":"6","author":"Bradley","year":"1995"},{"key":"b3","series-title":"J Med Genet","first-page":"233","article-title":"Inheritance of congenital pyloric stenosis.","volume":"6","author":"Carter","year":"1969"},{"key":"b4","series-title":"Craniosynostosis: Diagnosis, Evaluation and Management","first-page":"112","article-title":"Epidemiology of craniosynostosis","author":"Cohen","year":"2000"},{"key":"b5","series-title":"Neurosurg Clin N Am","first-page":"507","article-title":"Etiopathogenesis of craniosynostosis.","volume":"2","author":"Cohen","year":"1991"},{"key":"b6","series-title":"Pediatrics","first-page":"995","article-title":"Coronal craniostenosis: fetal head constraint as one possible cause.","volume":"65","author":"Graham","year":"1980"},{"key":"b7","series-title":"Pediatrics","first-page":"1000","article-title":"Metopic craniostenosis as a consequence of fetal head constraint: two interesting experiments of nature.","volume":"65","author":"Graham","year":"1980"},{"key":"b8","series-title":"Neurosurgery","first-page":"39","article-title":"Intrauterine constraint and craniosynostosis.","volume":"6","author":"Higginbottom","year":"1980"},{"key":"b9","series-title":"Hum Genet","first-page":"251","article-title":"Mutation detection in FGFR2 craniosynostosis syndromes.","volume":"99","author":"Hollway","year":"1997"},{"key":"b10","series-title":"Ann Plast Surg","first-page":"546","article-title":"Toward an understanding of nonsyndromic craniosynostosis: altered patterns of TGF-\u03b2 receptor and FGF receptor expression induced by intrauterine head constraint.","volume":"46","author":"Hunenko","year":"2001"},{"key":"b11","series-title":"La Situation D\u00e9mographique en 2001. Mouvement de la Population.","year":"2003"},{"key":"b12","series-title":"Teratology","first-page":"146","article-title":"Maternal smoking and craniosynostosis.","volume":"60","author":"Kallen","year":"1999"},{"key":"b13","series-title":"Scientific Foundations and Surgical Treatments of Craniosynostosis.","first-page":"96","article-title":"Sutures and intrauterine deformation","author":"Koskinen-Moffett","year":"1989"},{"key":"b14","series-title":"J Neurosurg","first-page":"778","article-title":"Craniosynostosis and fetal exposure to sodium valproate.","volume":"95","author":"Lajeunie","year":"2001"},{"key":"b15","series-title":"Am J Med Genet","first-page":"282","article-title":"Genetic study of scaphocephaly.","volume":"62","author":"Lajeunie","year":"1996"},{"key":"b16","series-title":"Am J Med Genet","first-page":"211","article-title":"Syndromal and non-syndromal primary trigonocephaly: analysis of a series of 237 patients.","volume":"75","author":"Lajeunie","year":"1998"},{"key":"b17","series-title":"Pediatrics","first-page":"565","article-title":"Multiple-birth infants at higher risk for development of deformational plagiocephaly.","volume":"103","author":"Littlefield","year":"1999"},{"key":"b18","series-title":"Trends Genet","first-page":"131","article-title":"Twins. Novel uses to study complex traits and genetic diseases.","volume":"16","author":"MacGregor","year":"2000"},{"key":"b19","series-title":"Nat Genet","first-page":"269","article-title":"A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.","volume":"8","author":"Muenke","year":"1994"},{"key":"b20","series-title":"J Neurosurg","first-page":"631","article-title":"Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.","volume":"92","author":"Renier","year":"2000"},{"key":"b21","series-title":"J Craniofac Surg","first-page":"580","article-title":"Sequence analysis of fibroblast growth factor receptor 2 (FGFR2) in Japanese patients with craniosynostosis.","volume":"12","author":"Sakai","year":"2001"},{"key":"b22","series-title":"Pediatrics","first-page":"E21","article-title":"A new look at intrauterine growth and the impact of race, altitude and gender.","volume":"106","author":"Thomas","year":"2000"},{"key":"b23","series-title":"Childs Nerv Syst","first-page":"526","article-title":"Sagittal synostosis in twin girls.","volume":"18","author":"Tubbs","year":"2002"},{"key":"b24","series-title":"J Craniofac Surg","first-page":"12","article-title":"The \u201cback to sleep campaign\u201d and deformational plagiocephaly: is there a cause for concern.","volume":"7","author":"Turk","year":"1996"},{"key":"b25","series-title":"J Craniofac Surg","first-page":"602","article-title":"Genetic and environmental risk factors for sagittal craniosynostosis.","volume":"13","author":"Zeiger","year":"2002"},{"key":"b1","series-title":"Teratology","first-page":"13","article-title":"Increased risk of craniosynostosis with maternal cigarette smoking during pregnancy.","volume":"50","author":"Alderman","year":"1994"},{"key":"b2","series-title":"Epidemiology","first-page":"306","article-title":"Parental occupations as risk factors for craniosynostosis in offspring.","volume":"6","author":"Bradley","year":"1995"},{"key":"b3","series-title":"J Med Genet","first-page":"233","article-title":"Inheritance of congenital pyloric stenosis.","volume":"6","author":"Carter","year":"1969"},{"key":"b4","series-title":"Craniosynostosis: Diagnosis, Evaluation and Management","first-page":"112","article-title":"Epidemiology of craniosynostosis","author":"Cohen","year":"2000"},{"key":"b5","series-title":"Neurosurg Clin N Am","first-page":"507","article-title":"Etiopathogenesis of craniosynostosis.","volume":"2","author":"Cohen","year":"1991"},{"key":"b6","series-title":"Pediatrics","first-page":"995","article-title":"Coronal craniostenosis: fetal head constraint as one possible cause.","volume":"65","author":"Graham","year":"1980"},{"key":"b7","series-title":"Pediatrics","first-page":"1000","article-title":"Metopic craniostenosis as a consequence of fetal head constraint: two interesting experiments of nature.","volume":"65","author":"Graham","year":"1980"},{"key":"b8","series-title":"Neurosurgery","first-page":"39","article-title":"Intrauterine constraint and craniosynostosis.","volume":"6","author":"Higginbottom","year":"1980"},{"key":"b9","series-title":"Hum Genet","first-page":"251","article-title":"Mutation detection in FGFR2 craniosynostosis syndromes.","volume":"99","author":"Hollway","year":"1997"},{"key":"b10","series-title":"Ann Plast Surg","first-page":"546","article-title":"Toward an understanding of nonsyndromic craniosynostosis: altered patterns of TGF-\u03b2 receptor and FGF receptor expression induced by intrauterine head constraint.","volume":"46","author":"Hunenko","year":"2001"},{"key":"b11","series-title":"La Situation D\u00e9mographique en 2001. Mouvement de la Population.","year":"2003"},{"key":"b12","series-title":"Teratology","first-page":"146","article-title":"Maternal smoking and craniosynostosis.","volume":"60","author":"Kallen","year":"1999"},{"key":"b13","series-title":"Scientific Foundations and Surgical Treatments of Craniosynostosis.","first-page":"96","article-title":"Sutures and intrauterine deformation","author":"Koskinen-Moffett","year":"1989"},{"key":"b14","series-title":"J Neurosurg","first-page":"778","article-title":"Craniosynostosis and fetal exposure to sodium valproate.","volume":"95","author":"Lajeunie","year":"2001"},{"key":"b15","series-title":"Am J Med Genet","first-page":"282","article-title":"Genetic study of scaphocephaly.","volume":"62","author":"Lajeunie","year":"1996"},{"key":"b16","series-title":"Am J Med Genet","first-page":"211","article-title":"Syndromal and non-syndromal primary trigonocephaly: analysis of a series of 237 patients.","volume":"75","author":"Lajeunie","year":"1998"},{"key":"b17","series-title":"Pediatrics","first-page":"565","article-title":"Multiple-birth infants at higher risk for development of deformational plagiocephaly.","volume":"103","author":"Littlefield","year":"1999"},{"key":"b18","series-title":"Trends Genet","first-page":"131","article-title":"Twins. Novel uses to study complex traits and genetic diseases.","volume":"16","author":"MacGregor","year":"2000"},{"key":"b19","series-title":"Nat Genet","first-page":"269","article-title":"A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.","volume":"8","author":"Muenke","year":"1994"},{"key":"b20","series-title":"J Neurosurg","first-page":"631","article-title":"Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.","volume":"92","author":"Renier","year":"2000"},{"key":"b21","series-title":"J Craniofac Surg","first-page":"580","article-title":"Sequence analysis of fibroblast growth factor receptor 2 (FGFR2) in Japanese patients with craniosynostosis.","volume":"12","author":"Sakai","year":"2001"},{"key":"b22","series-title":"Pediatrics","first-page":"E21","article-title":"A new look at intrauterine growth and the impact of race, altitude and gender.","volume":"106","author":"Thomas","year":"2000"},{"key":"b23","series-title":"Childs Nerv Syst","first-page":"526","article-title":"Sagittal synostosis in twin girls.","volume":"18","author":"Tubbs","year":"2002"},{"key":"b24","series-title":"J Craniofac Surg","first-page":"12","article-title":"The \u201cback to sleep campaign\u201d and deformational plagiocephaly: is there a cause for concern.","volume":"7","author":"Turk","year":"1996"},{"key":"b25","series-title":"J Craniofac Surg","first-page":"602","article-title":"Genetic and environmental risk factors for sagittal craniosynostosis.","volume":"13","author":"Zeiger","year":"2002"}],"container-title":["Journal of Neurosurgery: Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-pediatr\/103\/4\/article-p353.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-pediatr\/103\/4\/article-p353.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-pediatr\/103\/4\/article-p353.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T10:19:44Z","timestamp":1782209984000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-pediatr\/103\/4\/article-p353.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,10]]},"references-count":50,"journal-issue":{"issue":"4"},"URL":"https:\/\/doi.org\/10.3171\/ped.2005.103.4.0353","relation":{},"ISSN":["0022-3085"],"issn-type":[{"value":"0022-3085","type":"print"}],"subject":[],"published":{"date-parts":[[2005,10]]}}}