Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant.
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چکیده
منابع مشابه
Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant.
Nasopharyngeal teratomas are rare and are infrequently associated with extra-oral malformations. The case of a premature female infant with multiple congenital anomalies, including nasopharyngeal teratoma, Dandy-Walker malformation, diaphragmatic hernia, and congenital heart defect, is presented. This constellation of malformations does not appear to have been reported previously.
متن کاملNasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome.
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 co...
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Dandy-Walker malformation is a rare congenital malformation and involves the cerebellum and fourth ventricle. The condition is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be present, but the syndrome exists whenever these three features are found. A...
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Background: This case report presents a very rare Dandy-Walker malformation (DWM) in association with a sporadic condition characterized by congenital melanocytic nevi and melanocytic thickening of the leptomeninges called Neurocutaneous melanosis (NCM). The DWM is a rare congenital disorder characterized by enlarged posterior fossa and a cystic enlargement of the four...
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Dandy-Walker malformation (DWM) is a congenital abnormality of the posterior cranial fossa with reported incidence of 1:25,000 to 1:35,000 live births [1,2]. The classic clinical trials of the DWM are absence of cerebellar vermis, cystic dilatation of the fourth ventricle, and the enlargement of posterior cranial fossa [3]. In approximately 80% of diagnosed DWM cases, the syndrome is accompanie...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1990
ISSN: 1468-6244
DOI: 10.1136/jmg.27.12.788