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Familial impairment of vocal cord mobility in childhood with clubfoot.
Clinical Dysmorphology ( IF 0.7 ) Pub Date : 2018-6-19 , DOI: 10.1097/mcd.0000000000000227
Rebecca Shaw 1 , Cristina Dias 2, 3, 4 , Jeffrey Ludemann 5 , Rosemarie Rupps 2 , Vance Tsai 5 , Anna Lehman 1, 2
Affiliation  

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.

中文翻译:

马蹄足患儿声带活动性家族障碍。

我们报道了一个家庭,有三个兄弟姐妹,男女,受先天性双侧声带外展限制的影响,另外还有两个人发现了clubfeet。父亲的家族史提示常染色体显性遗传。兄弟姐妹和父亲也有轻微的颅面部特征,这可能是变异性的表现,也可能是无关的。据报道,先天性声带麻痹与马蹄内翻足之间的关联具有其他主要特征或在夏科特-玛丽-牙齿疾病的背景下。但是,这两个孤立的人以前仅在另一个家族中报告过。该家族的基因组分析,包括染色体微阵列和外显子组测序,既未显示已知疾病基因中可能的致病性变体,也未显示令人信服的候选基因变体。
更新日期:2020-12-17
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