title: Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome.
abstract: 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.
authors: Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. neerja17aiims@gmail.com.
authors: N
authors: N
authors: Gupta
authors: Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors: S
authors: S
authors: Shastri
authors: Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors: P K
authors: PK
authors: Singh
authors: Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India.
authors: M
authors: M
authors: Jana
authors: Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
authors: A
authors: A
authors: Mridha
authors: Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors: G
authors: G
authors: Verma
authors: Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors: M
authors: M
authors: Kabra
mesh_terms: D000015:Abnormalities, Multiple / Q000503:physiopathology; D003616:Dandy-Walker Syndrome / Q000150:complications / Q000503:physiopathology*; D005260:Female; D065630:Hernias, Diaphragmatic, Congenital / Q000150:complications / Q000503:physiopathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009303:Nasopharyngeal Neoplasms / Q000150:complications / Q000503:physiopathology*; D011247:Pregnancy; D013724:Teratoma / Q000150:complications / Q000503:physiopathology*