首页 | 本学科首页   官方微博 | 高级检索  
检索        


Ellis‐van Creveld syndrome in a patient from Tanzania
Authors:Marieke C J Dekker  Adnan M Sadiq  Mubashir A Jusabani  Vivian J Mdavire  Frank Baas  David H Morton  Ben C J Hamel
Institution:1.
Abstract:We report an African infant with Ellis‐van Creveld (EVC) syndrome. EVC syndrome is a chondral and ectodermal dysplasia with autosomal recessive transmission. The baby presented with polydactyly, short limbs and atrioventricular septal defect, but was withdrawn from clinical follow up for the first year of life. Initial hematological abnormalities could not be explained and normalized later. EVC syndrome was confirmed by genetic analysis that showed two pathogenic mutations in the EVC2 gene, c.653_654del, p.Val218Glyfs*12 in exon 5, and c.2710C>T, p.Gln904* in exon 16. The variant c.653_654del; p.Val218Glyfs*12 in exon 5 has not been described before. Our review of medical literature suggested this is the first molecularly confirmed case of EVC syndrome in sub‐Saharan Africa.
Keywords:Ellis‐van Creveld syndrome     EVC2 gene mutations  hematological abnormalities
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号