Ambiguous genitalia associated with an extremely rare syndrome: a case report of xlag syndrome and review of the literature | Zendy

Brijnandan Gupta | Zendy; Prashant Ramteke | Zendy; V. K. Paul | Zendy; Tarun Kumar | Zendy; Prasenjit Das | Zendy

Open Access

Ambiguous genitalia associated with an extremely rare syndrome: a case report of xlag syndrome and review of the literature

Author(s) -

Brijnandan Gupta,

Prashant Ramteke,

V. K. Paul,

Tarun Kumar,

Prasenjit Das

Publication year - 2017

Publication title -

turkish journal of pathology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.305

H-Index - 14

eISSN - 1309-5730

pISSN - 1018-5615

DOI - 10.5146/tjpath.2017.01391

Subject(s) - lissencephaly , corpus callosum , ambiguous genitalia , medicine , external genitalia , radiological weapon , rare disease , work up , pediatrics , disease , pathology , surgery , anatomy , biology , genetics , gene

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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