{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T17:35:13Z","timestamp":1786988113259,"version":"build-2736575974"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"8","license":[{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:p>X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia are the classical features of XLAG syndrome and as of now very few cases have been reported in the literature. In this study, we present the case of XLAG syndrome who presented in neonatal period with refractory seizures and ambiguous genitalia. MRI brain showed abnormal gyral pattern with smooth broad gyri suggestive of Lissencephaly and agenesis of corpus callosum. Our index case survived for only 25 days. Early suspicion, genetic counselling, and prenatal radiological work-up of such cases will reduce further burden on the family.<\/jats:p>","DOI":"10.4103\/jfmpc.jfmpc_922_20","type":"journal-article","created":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T05:57:47Z","timestamp":1598939867000},"page":"4467-4469","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome"],"prefix":"10.4103","volume":"9","author":[{"given":"Anjali","family":"Verma","sequence":"first","affiliation":[{"name":"Department of Pediatrics, PGIMS, Rohtak, Haryana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rashika","family":"Jain","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, PGIMS, Rohtak, Haryana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neha","family":"Babbar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, PGIMS, Rohtak, Haryana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sudeep","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, PGIMS, Rohtak, Haryana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2020,8]]},"reference":[{"key":"R1-20260817","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1002\/(SICI)1096-8628(19991008)86:4<331::AID-AJMG7>3.0.CO;2-P","article-title":"X-linked lissencephaly with absent corpus callosum and ambiguous genitalia","volume":"86","author":"Dobyns","year":"1999","journal-title":"Am J Med Genet"},{"key":"R2-20260817","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4103\/jpn.JPN_122_16","article-title":"A neonate with X-linked lissencephaly with 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ambiguous genitalia (XLAG): Clinical, magnetic resonance imaging, and neuropathological findings","volume":"51","author":"Bonneau","year":"2002","journal-title":"Ann Neuro"},{"key":"R10-20260817","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1055\/s-2004-817919","article-title":"Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene","volume":"35","author":"Hartmann","year":"2004","journal-title":"Neuropediatrics"}],"container-title":["Journal of Family Medicine and Primary Care"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/jfmpc.jfmpc_922_20","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T17:01:56Z","timestamp":1786986116000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/jfmpc.jfmpc_922_20"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8]]},"references-count":10,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2020]]}},"URL":"https:\/\/doi.org\/10.4103\/jfmpc.jfmpc_922_20","relation":{},"ISSN":["2249-4863","2278-7135"],"issn-type":[{"value":"2249-4863","type":"print"},{"value":"2278-7135","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8]]},"assertion":[{"value":"2020-05-19","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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