Spondylocarpotarsal synostosis with ocular findings

We report on three sibs presenting with spondylocarpotarsal synostosis, sho rt-trunk dwarfism of postnatal onset, scoliosis, unsegmented thoracic verte brae with unilateral bar, and carpal bone fusion, Tarsal bone fusion and de ntal abnormalities were noted in some of them, indicating pleiotropy and in trafamilial variability. Lens opacities, rarefaction of retinal pigmentatio n, and narrowing of retinal vessels, detected in two patients, are findings that have not been described to date in this condition, (C) 2000 Wiley-Lis s, Inc.