{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T09:14:55Z","timestamp":1694682895319},"reference-count":23,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:p>We report on a family with three siblings, male and female, affected by congenital bilateral limitation of vocal cord abduction, with the additional finding of clubfeet in two. The paternal family history suggests an autosomal dominant inheritance. The siblings and father also have mild craniofacial features, which may be an expression of variability or may be unrelated. The association between congenital vocal cord paralysis and clubfeet has been reported with additional major features or in the context of Charcot-Marie-Tooth disease. However, the two in isolation have only been reported in one other family previously. Genomic analyses of the family, including chromosomal microarray and exome sequencing, showed neither a likely pathogenic variant in a known disease gene nor a compelling candidate gene variant. We propose that the association of these two findings constitutes a novel recognizable phenotype, for which a genetic cause remains undetermined.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000227","type":"journal-article","created":{"date-parts":[[2018,6,15]],"date-time":"2018-06-15T00:01:10Z","timestamp":1529020870000},"page":"116-121","source":"Crossref","is-referenced-by-count":0,"title":["Familial impairment of vocal cord mobility in childhood with clubfoot"],"prefix":"10.1097","volume":"27","author":[{"given":"Rebecca","family":"Shaw","sequence":"first","affiliation":[{"name":"British Columbia Children\u2019s Hospital Research Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Dias","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of British Columbia, Vancouver, Canada"},{"name":"Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King\u2019s College London"},{"name":"The Francis Crick Institute, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey","family":"Ludemann","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Otolaryngology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosemarie","family":"Rupps","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of British Columbia, Vancouver, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vance","family":"Tsai","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Otolaryngology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Lehman","sequence":"additional","affiliation":[{"name":"British Columbia Children\u2019s Hospital Research Institute"},{"name":"Department of Medical Genetics, University of British Columbia, Vancouver, 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