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Familial impairment of vocal cord mobility in childhood with clubfoot

Research output: Contribution to journalArticlepeer-review

Rebecca Shaw, Cristina Dias, Jeffrey Ludemann, Rosemarie Rupps, Vance Tsai, Anna Lehman

Original languageEnglish
Pages (from-to)116-121
Number of pages6
JournalClinical Dysmorphology
Volume27
Issue number4
Early online date14 Jun 2018
DOIs
Accepted/In press9 May 2018
E-pub ahead of print14 Jun 2018
PublishedOct 2018

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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.

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