ORIGINAL ARTICLESFamilial impairment of vocal cord mobility in childhood with clubfootShaw, Rebeccaa; Dias, Cristinac,d,e; Ludemann, Jeffreyb; Rupps, Rosemariec; Tsai, Vanceb; Lehman, Annaa,cAuthor Information aBritish Columbia Children’s Hospital Research Institute bDepartment of Surgery, Division of Otolaryngology cDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada dDepartment of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King’s College London eThe Francis Crick Institute, London, UK Correspondence to Anna Lehman, MD, Department of Medical Genetics, University of British Columbia, C234 4500 Oak Street, Vancouver, Canada BC V6H3N1 Tel: +1 604 875 2157; fax: +1 604 875 2376; e-mail: [email protected] Clinical Dysmorphology: October 2018 - Volume 27 - Issue 4 - p 116-121 doi: 10.1097/MCD.0000000000000227 Buy Metrics Abstract 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. Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.