文章基本信息

标题：Thanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly
本地全文：下载
作者：Maria Francis Yuvaraj ; Ponuswamy Kasirajan Sankaran ; Gunapriya Raghunath 等
期刊名称：International Journal of Pediatrics
印刷版ISSN：2345-5047
电子版ISSN：2345-5055
出版年度：2017
卷号：5
期号：1
页码：4227-4231
DOI：10.22038/ijp.2016.7749
语种：English
出版社：Mashhad University of Medical Sciences
其他摘要：The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dysplasia is death bearing which is derived from Greek word. It occurs 1in 20,000 to 50,000. It is mainly due to mutations in the fibroblast growth factor receptor 3gene. Features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. The knowledge about this condition is useful in the fields of Anatomy, Paediatrics, Obstetrics and Gynaecology, Ultrasonagraphy and Genetics, for future research purpose.
其他关键词：Cloverleaf skull; Dysplasia; FGFR3; Thanatophoric