Abstract
Two families with “new” types of spondyloepiphyseal dysplasias are reported. The disease(s) are characterised by spinal changes, capital femoral epiphyseal involvement and minor changes in other epiphyses. The eye complications consist of myopia, lattice degeneration of the retina, retinal detachment and cataracts. Short stature is a major feature in the first family and shortening of the hands and feet in the second.
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MacDessi, J.J., Kozlowski, K. & Posen, S. Spondylo-epiphyseal dysplasia with ocular changes. Pediatr Radiol 7, 220–228 (1978). https://doi.org/10.1007/BF02386712
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DOI: https://doi.org/10.1007/BF02386712