Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips.

Genetic disorders of the skeleton or skeletal dysplasias are a clinically diverse and genetically heterogeneous group of connective tissue disorders affecting skeletal morphogenesis and development. More than 200 different entities have been described. Despite the growing availability of molecular testing for several of these disorders, the diagnosis of a skeletal dysplasia still relies primarily on a thorough clinical and radiographic study of the patient. Some particular radiographic signs can be very helpful in establishing the diagnosis. One such example is the presence of cone shaped epiphyses. In most instances, cone shaped epiphyses represent the initial stage of premature epimetaphyseal fusion resulting in growth arrest and shortening of the bone involved. Analysis of the site and shape of cone shaped epiphyses, in particular of the phalanges, can be helpful in the diagnosis of skeletal dysplasias. Based on the observation of four patients, we delineate a new skeletal dysplasia with autosomal recessive inheritance. Because all cases show cone shaped epiphyses in the hands and a radiographically characteristic involvement of the proximal femoral epiphyses, we propose naming this condition acrocapitofemoral dysplasia.