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Ambiguous Genitalia Associated with an Extremely Rare Syndrome: A Case Report of XLAG Syndrome and Review of the Literature
- Source :
- Türk Patoloji Dergisi, Vol 35, Iss 2, Pp 162-165 (2019)
- Publication Year :
- 2019
- Publisher :
- Federation of Turkish Pathology Societies, 2019.
-
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.
- Subjects :
- Lissencephaly
Corpus callosum
Ambiguous genitalia
Epilepsy
Syndrome
Pathology
RB1-214
Subjects
Details
- Language :
- English
- ISSN :
- 10185615 and 13095730
- Volume :
- 35
- Issue :
- 2
- Database :
- Directory of Open Access Journals
- Journal :
- Türk Patoloji Dergisi
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.ffe4c9d031a4d8f8b9c5fce2decb737
- Document Type :
- article
- Full Text :
- https://doi.org/10.5146/tjpath.2017.01391