Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy–Walker malformation – a yet uncharacterized syndrome | Zendy

Gupta N. | Zendy; Shastri S. | Zendy; Singh P.K. | Zendy; Jana M. | Zendy; Mridha A. | Zendy; Verma G. | Zendy; Kabra M. | Zendy

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Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy–Walker malformation – a yet uncharacterized syndrome

Author(s) -

Gupta N.,

Shastri S.,

Singh P.K.,

Jana M.,

Mridha A.,

Verma G.,

Kabra M.

Publication year - 2016

Publication title -

clinical genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.543

H-Index - 102

eISSN - 1399-0004

pISSN - 0009-9163

DOI - 10.1111/cge.12830

Subject(s) - exome sequencing , diaphragmatic hernia , teratoma , congenital diaphragmatic hernia , dandy–walker syndrome , medicine , hernia , exome , genetics , biology , pathology , mutation , fetus , general surgery , gene , surgery , hydrocephalus , pregnancy

An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights. An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights.

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