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The baby presented with polydactyly, short limbs and atrioventricular septal defect, but was withdrawn from clinical follow up for the first year of life.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 <jats:italic>EVC2<\/jats:italic> gene, c.653_654del, p.Val218Glyfs*12 in exon 5, and c.2710C&gt;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\u2010Saharan Africa.<\/jats:p>","DOI":"10.1002\/ajmg.a.61309","type":"journal-article","created":{"date-parts":[[2019,7,27]],"date-time":"2019-07-27T06:54:40Z","timestamp":1564210480000},"page":"2034-2038","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Ellis\u2010van Creveld syndrome in a patient from Tanzania"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4488-8198","authenticated-orcid":false,"given":"Marieke C. 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