Goldblatt syndrome is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. Chondrodysplasia is characterized by mesomelic limb shortening, joint laxity, platyspondyly with coronal clefts, brachydactyly and coxa valga.
There is a decrease in synthesis of collagen type I (A1 and A2), and a single-base substitution in the COL2A1 gene. It was proposed that this mutation has sequential effects on tissue-specific regulatory sequences that control the expression of type I collagen genes.
