{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T00:08:34Z","timestamp":1769731714102,"version":"3.49.0"},"reference-count":18,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"4","license":[{"start":{"date-parts":[[2024,7,22]],"date-time":"2024-07-22T00:00:00Z","timestamp":1721606400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Cosmet Laser Ther"],"published-print":{"date-parts":[[2024,7,22]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>Dermal sinuses and encephaloceles are uncommon central nervous system malformations. The occurrence of these malformations in different members of a family is very rare.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>OBSERVATIONS<\/jats:title>\n                    <jats:p>This report documents the unique case of a 10-month-old boy with a frontonasal encephalocele, born to a mother with a nasal dermal sinus. These two specific neural tube defects have not been previously reported as occurring between parent and child.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>LESSONS<\/jats:title>\n                    <jats:p>This case demonstrates potential heritable links in central nervous system malformations through the occurrence of a frontonasal encephalocele in a child born to a mother with a dermal sinus. The connection between these two malformations in a heritable manner suggests a potential need for further research into the genetic pathogenesis of such defects to predict them more accurately within families.<\/jats:p>\n                    <jats:p>\n                      <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/thejns.org\/doi\/10.3171\/CASE23727\">https:\/\/thejns.org\/doi\/10.3171\/CASE23727<\/jats:ext-link>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3171\/case23727","type":"journal-article","created":{"date-parts":[[2024,7,23]],"date-time":"2024-07-23T22:34:12Z","timestamp":1721774052000},"source":"Crossref","is-referenced-by-count":0,"title":["Nasofrontal encephalocele in a child, associated with a nasal dermal sinus in his mother: familial cranial malformations. Illustrative case"],"prefix":"10.3171","volume":"8","author":[{"given":"Mir","family":"Yabir Ali","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, Hackensack University Medical Center, Prospect, New Jersey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zohreh","family":"Habibi","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Children\u2019s Medical Center, Tehran University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farideh","family":"Nejat","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Children\u2019s Medical Center, Tehran University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mostafa","family":"El Khashab","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Hackensack University Medical Center, Prospect, New Jersey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"issue":"2","key":"bib1","series-title":"Fetal Diagn Ther","first-page":"68","article-title":"Prognosis of spina bifida in the era of prenatal diagnosis and termination of pregnancy","volume":"26","author":"Aguilera","year":"2009","unstructured":"Aguilera SSoothill PDenbow MPople I. Prognosis of spina bifida in the era of prenatal diagnosis and termination of pregnancy. Fetal Diagn Ther. 2009;26(2):68-74."},{"issue":"1","key":"bib2","series-title":"Am J Med Genet C Semin Med Genet","first-page":"69","article-title":"Non-multifactorial neural tube defects","volume":"135C","author":"Lynch","year":"2005","unstructured":"Lynch SA. Non-multifactorial neural tube defects. Am J Med Genet C Semin Med Genet. 2005;135C(1):69-76."},{"key":"bib3","series-title":"Youmans and Winn Neurological Surgery","first-page":"1621","article-title":"Encephaloceles, meningoceles and cranial dermal sinus tracts. In: Winn HR.","author":"Sandler","year":"2022","unstructured":"Sandler ALGoodrich JT. Encephaloceles, meningoceles and cranial dermal sinus tracts. In: Winn HR. Youmans and Winn Neurological Surgery. 8th ed. Elsevier Enhanced; 2022:1621-1635."},{"issue":"4","key":"bib4","series-title":"J Neurosurg","first-page":"326","article-title":"Possible genetic correlation of an occipital dermal sinus in a mother and son. Case report","volume":"105","author":"Ansari","year":"2006","unstructured":"Ansari SDadmehr MNejat F. Possible genetic correlation of an occipital dermal sinus in a mother and son. Case report. J Neurosurg. 2006;105(4)(suppl):326-328."},{"issue":"3","key":"bib5","series-title":"Sao Paulo Med J","first-page":"298","article-title":"Dermoid cyst with cerebellar meningoencephalocele at different locations accompanied by posterior fossa abnormalities: case report","volume":"137","author":"Tokmak","year":"2019","unstructured":"Tokmak TTKo\u00e7 AKarabiyik OKaya AGureli M. Dermoid cyst with cerebellar meningoencephalocele at different locations accompanied by posterior fossa abnormalities: case report. Sao Paulo Med J. 2019;137(3):298-301."},{"issue":"1","key":"bib6","series-title":"Nat Genet","first-page":"111","article-title":"A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase","volume":"10","author":"Frosst","year":"1995","unstructured":"Frosst PBlom HJMilos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995;10(1):111-113."},{"issue":"4","key":"bib7","series-title":"Am J Med Genet","first-page":"610","article-title":"5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects","volume":"63","author":"Ou","year":"1996","unstructured":"Ou CYStevenson REBrown VK, et al. 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet. 1996;63(4):610-614."},{"issue":"9","key":"bib8","series-title":"Am J Epidemiol","first-page":"862","article-title":"5, 10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review","volume":"151","author":"Botto","year":"2000","unstructured":"Botto LDYang Q. 5, 10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol. 2000;151(9):862-877."},{"issue":"4","key":"bib9","series-title":"J Neurosurg Pediatr","first-page":"298","article-title":"Hydrocephalus in patients with encephalocele: introduction of a scoring system for estimating the likelihood of hydrocephalus based on an 11-year experience from a tertiary center","volume":"31","author":"Kankam","year":"2023","unstructured":"Kankam SBNejat ATavallaii ATayebi Meybodi KHabibi ZNejat F. Hydrocephalus in patients with encephalocele: introduction of a scoring system for estimating the likelihood of hydrocephalus based on an 11-year experience from a tertiary center. J Neurosurg Pediatr. 2023;31(4):298-305."},{"issue":"2","key":"bib1","series-title":"Fetal Diagn Ther","first-page":"68","article-title":"Prognosis of spina bifida in the era of prenatal diagnosis and termination of pregnancy","volume":"26","author":"Aguilera","year":"2009","unstructured":"Aguilera SSoothill PDenbow MPople I. Prognosis of spina bifida in the era of prenatal diagnosis and termination of pregnancy. Fetal Diagn Ther. 2009;26(2):68-74."},{"issue":"1","key":"bib2","series-title":"Am J Med Genet C Semin Med Genet","first-page":"69","article-title":"Non-multifactorial neural tube defects","volume":"135C","author":"Lynch","year":"2005","unstructured":"Lynch SA. Non-multifactorial neural tube defects. Am J Med Genet C Semin Med Genet. 2005;135C(1):69-76."},{"key":"bib3","series-title":"Youmans and Winn Neurological Surgery","first-page":"1621","article-title":"Encephaloceles, meningoceles and cranial dermal sinus tracts. In: Winn HR.","author":"Sandler","year":"2022","unstructured":"Sandler ALGoodrich JT. Encephaloceles, meningoceles and cranial dermal sinus tracts. In: Winn HR. Youmans and Winn Neurological Surgery. 8th ed. Elsevier Enhanced; 2022:1621-1635."},{"issue":"4","key":"bib4","series-title":"J Neurosurg","first-page":"326","article-title":"Possible genetic correlation of an occipital dermal sinus in a mother and son. Case report","volume":"105","author":"Ansari","year":"2006","unstructured":"Ansari SDadmehr MNejat F. Possible genetic correlation of an occipital dermal sinus in a mother and son. Case report. J Neurosurg. 2006;105(4)(suppl):326-328."},{"issue":"3","key":"bib5","series-title":"Sao Paulo Med J","first-page":"298","article-title":"Dermoid cyst with cerebellar meningoencephalocele at different locations accompanied by posterior fossa abnormalities: case report","volume":"137","author":"Tokmak","year":"2019","unstructured":"Tokmak TTKo\u00e7 AKarabiyik OKaya AGureli M. Dermoid cyst with cerebellar meningoencephalocele at different locations accompanied by posterior fossa abnormalities: case report. Sao Paulo Med J. 2019;137(3):298-301."},{"issue":"1","key":"bib6","series-title":"Nat Genet","first-page":"111","article-title":"A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase","volume":"10","author":"Frosst","year":"1995","unstructured":"Frosst PBlom HJMilos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. 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Am J Epidemiol. 2000;151(9):862-877."},{"issue":"4","key":"bib9","series-title":"J Neurosurg Pediatr","first-page":"298","article-title":"Hydrocephalus in patients with encephalocele: introduction of a scoring system for estimating the likelihood of hydrocephalus based on an 11-year experience from a tertiary center","volume":"31","author":"Kankam","year":"2023","unstructured":"Kankam SBNejat ATavallaii ATayebi Meybodi KHabibi ZNejat F. Hydrocephalus in patients with encephalocele: introduction of a scoring system for estimating the likelihood of hydrocephalus based on an 11-year experience from a tertiary center. 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