Kozlowski K, Bacha L, Massen R, Ayati M, Sator S, Brahimi L
Department of Radiology, Royal Alexandra Hospital for Children, Sydney, Australia.
Pediatr Radiol. 1988;18(3):221-6. doi: 10.1007/BF02390399.
A new, dominantly inherited, severe form of spondylometaphyseal dysplasia in five members of an Algerian family is reported. Another child, not investigated, was also probably affected. The disease is characterised by a unique clinical and radiological set of features: dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. In view of the geographical localisation of the disorder and the anatomical distribution we propose the name Algerian type of spondylo-metaphyseal dysplasia.
