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Approximately 40 patients with Catel\u2013Manzke have been reported, all with the pathognomonic bilateral or unilateral hyperphalangy caused by an accessory bone between the second metacarpal and proximal phalanx known as Manzke dysostosis. Here we present the first case of molecularly confirmed Catel\u2013Manzke syndrome with Robin sequence but without Manzke dysostosis.<\/jats:p>","DOI":"10.1002\/ajmg.a.61436","type":"journal-article","created":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T06:27:51Z","timestamp":1576218471000},"page":"437-440","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Catel\u2013Manzke syndrome without Manzke dysostosis"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6096-8601","authenticated-orcid":false,"given":"Danny E.","family":"Miller","sequence":"first","affiliation":[{"name":"Department of Medicine, Division of Medical Genetics University of Washington  Seattle Washington"},{"name":"Department of Pediatrics, Division of Genetic Medicine University of Washington, Seattle, Washington and Seattle Children's Hospital  Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Penny","family":"Chow","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Craniofacial Medicine Seattle Children's Hospital  Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3266-8166","authenticated-orcid":false,"given":"Emily R.","family":"Gallagher","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Craniofacial Medicine Seattle Children's Hospital  Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan A.","family":"Perkins","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Seattle Children's Hospital  Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tara L.","family":"Wenger","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetic Medicine University of Washington, Seattle, Washington and Seattle Children's Hospital  Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,12,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_8_3_1","first-page":"218","article-title":"Differentialdiagnose von Krankheitssymptomen bei Kindern und Jugendlichen","volume":"1","author":"Catel W.","year":"1961","journal-title":"G. 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