{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T04:39:42Z","timestamp":1770352782121,"version":"3.49.0"},"reference-count":36,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"11","license":[{"start":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T00:00:00Z","timestamp":1710115200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,11]]},"abstract":"\n BACKGROUND<\/jats:title>\n Iniencephaly is a rare neural tube defect (NTD) characterized by deformities in the occiput and inion, along with rachischisis in the cervical and thoracic spine, resulting in the head appearing in retroflexion.<\/jats:p>\n <\/jats:sec>\n \n OBSERVATIONS<\/jats:title>\n This report details the case of a female newborn who underwent surgery for an encephalocele. She survived up to 6 months, exhibiting good overall health, although she displayed physical abnormalities, including facial deformity, a short neck, and minor spasms in all limbs. Both cardiovascular and abdominal assessments remained stable, and imaging revealed defects in the occipital bone, a large cephalocele, and spinal dysraphism.<\/jats:p>\n <\/jats:sec>\n \n LESSONS<\/jats:title>\n Although iniencephaly is generally incompatible with life, a few cases have been reported otherwise. Our patient, one of these notable exceptions, remains alive at 6 months old, possibly due to the lack of major vascular deformities. However, she does exhibit significant psychomotor retardation.<\/jats:p>\n <\/jats:sec>","DOI":"10.3171\/case2414","type":"journal-article","created":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T13:01:08Z","timestamp":1710162068000},"source":"Crossref","is-referenced-by-count":1,"title":["Surviving against the odds: exploring the clinical and radiological features of iniencephaly compatible with life. Illustrative case"],"prefix":"10.3171","volume":"7","author":[{"given":"Hassan","family":"Kadri","sequence":"first","affiliation":[{"name":"Departments of Neurosurgery, and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mazen","family":"Dughly","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology DNH, Damascus, Syria; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamad","family":"Shehadeh Agha","sequence":"additional","affiliation":[{"name":"Pediatrics, Children\u2019s University Hospital, Faculty of Medicine, Damascus University, Damascus, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raed","family":"Abouharb","sequence":"additional","affiliation":[{"name":"Pediatrics, Children\u2019s University Hospital, Faculty of Medicine, Damascus University, Damascus, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rostom","family":"Mackieh","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery, and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sameer","family":"Bakleh","sequence":"additional","affiliation":[{"name":"Pediatrics, Children\u2019s University Hospital, Faculty of Medicine, Damascus University, Damascus, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thea","family":"Kadri","sequence":"additional","affiliation":[{"name":"Department of Biology, The George Washington University, Washington, DC"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"issue":"6","key":"b1","series-title":"Childs Nerv Syst","first-page":"719","article-title":"Iniencephaly and long-term survival: a rare case report","volume":"23","author":"Aytar MH","year":"2007","unstructured":"Aytar MH, Do\u011fulu F, Cemil B, Erg\u00fcn E, Kurt G, Baykaner K Iniencephaly and long-term survival: a rare case report. Childs Nerv Syst. 2007;23(6):719\u2013721."},{"issue":"8","key":"b2","series-title":"Prenat Diagn","first-page":"595","article-title":"Iniencephaly is not uniformly fatal","volume":"9","author":"Katz VL","year":"1989","unstructured":"Katz VL, Aylsworth AS, Albright SG Iniencephaly is not uniformly fatal. Prenat Diagn. 1989;9(8):595\u2013599."},{"issue":"4","key":"b3","series-title":"J Neurosci Rural Pract","first-page":"389","article-title":"Iniencephaly: radiological and pathological features of a series of three cases","volume":"5","author":"Chikkannaiah P","year":"2014","unstructured":"Chikkannaiah P, Srinivasamurthy V, Satish Prasad BS, Lalyanayak P, Shivaram DN Iniencephaly: radiological and pathological features of a series of three cases. J Neurosci Rural Pract. 2014;5(4):389\u2013393."},{"key":"b4","series-title":"BMC Med Genet","first-page":"62","article-title":"Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects","volume":"13","author":"Pangilinan F","year":"2012","unstructured":"Pangilinan F, Molloy AM, Mills JL, Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects. BMC Med Genet. 2012;13:62."},{"issue":"5","key":"b5","series-title":"Am J Med Genet","first-page":"723","article-title":"Evidence for multi-site closure of the neural tube in humans","volume":"47","author":"Van Allen MI","year":"1993","unstructured":"Van Allen MI, Kalousek DK, Chernoff GF, Evidence for multi-site closure of the neural tube in humans. Am J Med Genet. 1993;47(5):723\u2013743."},{"issue":"2","key":"b6","series-title":"J Pediatr Neurosci","first-page":"121","article-title":"Iniencephaly clausus: a case report with review of literature","volume":"6","author":"Kulkarni PR","year":"2011","unstructured":"Kulkarni PR, Rao RV, Alur MB, Joshi SK Iniencephaly clausus: a case report with review of literature. J Pediatr Neurosci. 2011;6(2):121\u2013123."},{"issue":"9","key":"b7","series-title":"Indian Pediatr","first-page":"891","article-title":"Iniencephaly: a report of 19 cases","volume":"35","author":"Halder A","year":"1998","unstructured":"Halder A, Pahi J, Pradhan M, Pandey A, Gujral R, Agarwal SS Iniencephaly: a report of 19 cases. Indian Pediatr. 1998;35(9):891\u2013896."},{"issue":"4","key":"b8","series-title":"J Prenat Med","first-page":"74","article-title":"Iniencephaly with mediastinal bronchogenic cyst: a case report","volume":"4","author":"Akdemir Y","year":"2010","unstructured":"Akdemir Y, Ayvac\u0131 H, Demirci O, Iniencephaly with mediastinal bronchogenic cyst: a case report. J Prenat Med. 2010;4(4):74\u201376."},{"issue":"11","key":"b9","series-title":"Indian J Pediatr","first-page":"1189","article-title":"Iniencephaly: association with unusual congenital malformations","volume":"75","author":"Basu S","year":"2008","unstructured":"Basu S, Muthusami S, Bhutada A, Kumar A Iniencephaly: association with unusual congenital malformations. Indian J Pediatr. 2008;75(11):1189\u20131190."},{"issue":"5","key":"b10","series-title":"Spine J","first-page":"564","article-title":"Embryology of the spine and associated congenital abnormalities","volume":"5","author":"Kaplan KM","year":"2005","unstructured":"Kaplan KM, Spivak JM, Bendo JA Embryology of the spine and associated congenital abnormalities. Spine J. 2005;5(5):564\u2013576."},{"key":"b11","series-title":"Case Rep Obstet Gynecol","first-page":"849589","article-title":"Iniencephaly and holoprosencephaly: report of a rare association","volume":"2014","author":"Tokmak A","year":"2014","unstructured":"Tokmak A, Timur H, Da\u011flar K, Kara O Iniencephaly and holoprosencephaly: report of a rare association. Case Rep Obstet Gynecol. 2014;2014:849589."},{"key":"b12","series-title":"Front Pediatr","first-page":"1126209","article-title":"A quest for genetic causes underlying signaling pathways associated with neural tube defects","volume":"11","author":"Rai S","year":"2023","unstructured":"Rai S, Leydier L, Sharma S, Katwala J, Sahu A A quest for genetic causes underlying signaling pathways associated with neural tube defects. Front Pediatr. 2023;11:1126209."},{"key":"b13","series-title":"Annu Rev Nutr","first-page":"423","article-title":"Folic acid and the prevention of birth defects: 30 years of opportunity and controversies","volume":"42","author":"Crider KS","year":"2022","unstructured":"Crider KS, Qi YP, Yeung LF, Folic acid and the prevention of birth defects: 30 years of opportunity and controversies. 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