Literature DB >> 28272686

Ambiguous Genitalia Associated with an Extremely Rare Syndrome: A Case Report of XLAG Syndrome and Review of the Literature.

Brijnandan Gupta1, Prashant Ramteke, V K Paul, Tarun Kumar, Prasenjit DAS.   

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.

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Year:  2019        PMID: 28272686     DOI: 10.5146/tjpath.2017.01391

Source DB:  PubMed          Journal:  Turk Patoloji Derg        ISSN: 1018-5615


  2 in total

1.  Fetal and neonatal MRI features of ARX-related lissencephaly presenting with neonatal refractory seizure disorder.

Authors:  Sara Ffrench-Constant; Carolina Kachramanoglou; Brynmor Jones; Nigel Basheer; Nikolaos Syrmos; Mario Ganau; Wajanat Jan
Journal:  Quant Imaging Med Surg       Date:  2019-11

2.  Ambiguous Genitalia and Lissencephaly in A 46,XY Neonate with a Novel Variant of Aristaless Gene.

Authors:  M Basa; R Vukovic; A Sarajlija; T Milenkovic; M Djordjevic; B Vucetic; J Martic
Journal:  Acta Endocrinol (Buchar)       Date:  2021 Jul-Sep       Impact factor: 0.877

  2 in total

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