The occurrence of Poland and Polandhyphen;Moebius syndromes in the same familyfurther evidence of their genetic component

摘要

The combination of Moebius and Poland anomalies is rarely described in the literature. Some authors believe that this association is an independent syndrome, while others propose that Poland, Moebius and Poland-Moebius are a spectrum of the same condition. Here we report a family where a child has Poland-Moebius syndrome and an aunt is affected with Poland anomaly. This probably represents the second report of possible autosomal dominant transmission of Poland-Moebius syndrome. The presence of contralateral triphalangeal thumb in the proband and in other members of the family can be explained by chance alone or, alternatively, by a pleiotropic expression of this gene.