title: Ambiguous Genitalia Associated with an Extremely Rare Syndrome: A Case Report of XLAG Syndrome and Review of the Literature.
abstract: X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia comprises the XLAG syndrome and only 15 cases have been reported in literature. Due to its rarity, the exact clinical course and outcome are not known. Exact associations of this disease are also elusive. Hereby we are reporting this extremely rare entity and we searched the English literature extensively to get consolidated knowledge regarding this entity that would help the readers. Pre-natal radiological work-up can detect these malformations, which should be followed by medical termination, counseling and karyotyping. Till date the longest survival noted was 4 years only.
authors.affiliation: Department of Pathology, All India Institute of Medical Science, NEW DELHI, INDIA.
authors.forename: Brijnandan
authors.initials: B
authors.lastname: Gupta
authors.forename: Prashant
authors.initials: P
authors.lastname: Ramteke
authors.forename: V K
authors.initials: VK
authors.lastname: Paul
authors.forename: Tarun
authors.initials: T
authors.lastname: Kumar
authors.forename: Prasenjit
authors.initials: P
authors.lastname: DAS
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000150:complications* / Q000473:pathology; D001049:Apnea / Q000628:therapy; D001921:Brain / Q000473:pathology; D003456:Cryptorchidism / Q000150:complications / Q000473:pathology; D012734:Disorders of Sex Development / Q000150:complications* / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D007031:Hypothalamus / Q000503:physiopathology; D007231:Infant, Newborn; D007234:Infant, Premature; D054082:Lissencephaly / Q000150:complications* / Q000473:pathology; D008297:Male; D012640:Seizures; D013577:Syndrome; D013737:Testis / Q000473:pathology