Diastrophic dwarfism

Abstract

Four cases of diastrophic dwarfism are presented. This is an autosomal recessive syndrome with a 1 in 4 risk to sibs. The condition has been confused with achondroplasia and Morquio's disease. Clinical features are a normal head, short limbs, scoliosis, club foot, and joint contractures. There may be also a generalized joint laxity which influences the prognosis. Some patients have a cleft palate and develop swellings of the ears. The main radiological features are dislocations, and delay in appearance and poor development of many limb epiphyses. Spinal changes permit a distinction from achondroplasia and Morquio's disease. Persistent treatment of the contractures and scoliosis is necessary but is both difficult and disappointing.