Purpose Cartilage hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia characterized by short stature and short limbs, found primarily in Amish and Finnish populations. Cartilage hair hypoplasia is caused by mutations in the RMRP gene located…
BACKGROUND: Ellis-van Creveld is a dwarfing syndrome transmitted as an autosomal recessive trait. The constant features of the condition include acromelic-micromelic dwarfism, ectodermal dysplasia involving the nails, teeth and gums, postaxial…
Background: Surgical correction of the foot and ankle in patients with diastrophic dysplasia is extremely difficult secondary to the markedly distorted pathoanatomy. Several authors have described superficially some of the clinical and radiographic…
Purpose: Surgical correction of the hip and knee in patients with diastrophic dysplasia is extremely difficult secondary to the markedly distorted pathoanatomy of both the bone and soft tissues. The objective of this study is to provide a…
