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We performed a literature search, and analyzed 51 reported patients, using the originally reported patients as \u201cgold standard.\u201d In 15 patients sufficient information and photographic evidence was available to confirm the clinical diagnosis. In 12 patients the diagnosis was suggestive but lack of data prevented a definite diagnosis, and in 24 patients an alternative diagnosis was likely. Core manifestations of the syndrome are marked pre\u2010natal and severe post\u2010natal growth retardation, an unusual face (triangular shape, sparse hair, small mouth, pointed chin), dental anomalies (natal teeth; hypodontia), generalized lipodystrophy with localized fat masses, and\u2014in some cases\u2014progressive ataxia and tremor. It has been suggested that the syndrome might be caused by biallelic variants in<jats:italic>POLR3A<\/jats:italic>, identified by exome sequencing in a single patient only. Therefore, we compared the WRS phenotype with characteristics of conditions known to be caused by autosomal recessively inherited<jats:italic>POLR3A<\/jats:italic>mutations. There are major differences but there are also similarities in phenotype, which sustain the suggestion that the syndrome can be caused by disturbed POLR3A functioning.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38246","type":"journal-article","created":{"date-parts":[[2017,4,27]],"date-time":"2017-04-27T04:43:24Z","timestamp":1493268204000},"page":"1763-1772","source":"Crossref","is-referenced-by-count":46,"title":["Wiedemann\u2013Rautenstrauch syndrome: A phenotype analysis"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0946-0543","authenticated-orcid":false,"given":"Stefano","family":"Paolacci","sequence":"first","affiliation":[{"name":"Department of Experimental Medicine \u201cSapienza\u201d University of Rome Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4701-6777","authenticated-orcid":false,"given":"Debora","family":"Bertola","sequence":"additional","affiliation":[{"name":"Unidade de Gen\u00e9tica do Instituto da Crian\u00e7a Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9","family":"Franco","sequence":"additional","affiliation":[{"name":"Unidade de Gen\u00e9tica do Instituto da Crian\u00e7a Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shehla","family":"Mohammed","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Guy's Hospital London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Tartaglia","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9 Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Wollnik","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C.","family":"Hennekam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,4,26]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"377","article-title":"A new case of neonatal progeroid syndrome with agenesis of corpus callosum","volume":"10","author":"Abdel\u2010Salam G. 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