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We report on a 23\u2010year\u2010old girl, with features of microform holoprosencephaly and bilateral congenital elbow dislocation in association with hypoplastic radial heads. She was identified to have a variant in the <jats:italic>CDON<\/jats:italic> gene inherited from her father who had ocular hypotelorism, but no other clinical features. We discuss the clinical features of Steinfeld syndrome, and broaden the phenotypic spectrum of this condition. Structural analysis suggests that this variant could lead to destabilisation of binding of <jats:italic>CDON<\/jats:italic> with hedgehog proteins. Further work needs to be done to confirm whether mutations in the <jats:italic>CDON<\/jats:italic> gene are the cause of Steinfeld syndrome. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37511","type":"journal-article","created":{"date-parts":[[2016,1,5]],"date-time":"2016-01-05T14:02:24Z","timestamp":1452002544000},"page":"754-759","source":"Crossref","is-referenced-by-count":10,"title":["Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome"],"prefix":"10.1002","volume":"170","author":[{"given":"Gabriela E.","family":"Jones","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics University Hospitals Leicester NHS Trust Leicester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Robertson","sequence":"additional","affiliation":[{"name":"North of Scotland Clinical Genetics Service Aberdeen United 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