Tibial hemimelia–polydactyly–triphalangeal thumb syndrome is a distinct congenital limb
anomaly complex, whose association with the 404 G> A mutation in a distant sonic …

We report on a Thai man who had triphalangeal thumb‐polysyndactyly syndrome (TPTPS,
MIM* 190605) and his daughter who had tibial hemimelia‐polysyndactyly‐triphalangeal …

Tibial hemimelia is a rare, debilitating and often sporadic congenital deficiency. In syndromic
cases, mutations of a Sonic hedgehog (SHH) enhancer have been identified. Here we …

Werner mesomelic syndrome (WMS), an autosomal dominant disorder characterized by
hypoplastic tibiae, triphalangeal thumbs and polydactyly, is caused by a specific point …

In 2002, we reinvestigated a large synpolydactyly kindred first described in 1995. It was
found to have expanded with an increase in number of homozygous offspring. These …

Many authors have documented the anatomic variability of radial-sided polydactyly and
triphalangism of the thumb, but the relationship between these two conditions remains …

Tibial aplasia with polydactyly of hands and feet is a rare congenital anomaly, affecting both
sexes with reported prevalence between 5 and 19 per 10000 live births (1). The molecular …

Introduction. The term “mesomelic dysplasia” refers to a group of disorders wherein limb
shortening is most pronounced in the middle segment (forearm and leg) of the extremities …

Введение. Мезомелические дисплазии представляют собой гетерогенную группу
заболеваний с укорочением конечностей преимущественно в среднем сегменте …

Duplication of one or more toes may occur as an isolated anomaly (Bromley et al. 2000) or
in association with other skeletal anomalies or be part of a generalized syndrome (Castilla et …