AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA

We present a previously undescribed skeletal dysplasia characterized b y mild platyspondyly, small thorax with cupping of the anterior ends o f the ribs, irregular proximal femoral metaphyses, and lacy appearance of the iliac wings. Two of the three cases were siblings. Retinitis p igmentosa and optic atrophy are associated findings. Conclusion We des cribe a new type of spondylometaphyseal dysplasia (SMD) and propose th e name axial SMD.