"It carries an autosomal recessive inheritance and thought to be due to mutations in the diastrophic dysplasia sulfate transporter (SLC26A2) gene located at chromosome 5q32-q33.1, resulting in under-sulfated proteoglycans in the cartilage matrix."
Expected headings
"Clinical features"
"Associations"
"The bones are characterised by crescent-shaped flattened epiphyses, a short, broad femoral neck, and shortening and metaphyseal widening of the tubular bones. There is irregular deformity and shortening of the metacarpal bones, metatarsal bones, and phalanges. Abduction of the great toes and clubfeet may also be observed."