Mother and daughter with a novel phenotype of hand and foot anomalies and severe pectus excavatum

摘要

I read with interest the clinical report by Low et al. [2013] on a mother and daughter with a "novel" phenotype of hand and foot anomalies and severe pectus excavatum. I have a few comments, which I like to transfer to the authors of the article and to the readers of your respectable Journal to correct some information. Low et al. [2013] mention Temtamy [2005] as the reference for Temtamy preaxial brachydactyly syndrome (TPBD) and that it is of "probable" autosomal recessive inheritance. The accurate information is that the syndrome was first identified by Temtamy et al. [1998] and that autosomal recessive inheritance was suggested which was confirmed by the studies of Li et al. [2010], Tian et al. [2010], Race et al. [2010], and Temtamy et al. [2012]. In the latter publication 16 definite patients with TPBD syndrome were presented. In all, parents were consanguineous and mutations were found in CHYS1; in 14 patients homozygous missense mutations were found, while in two sibs, also offspring of a cousin marriage, were compound heterozygous; thus autosomal recessive inheritance is definite and not "probable".