spondyloepiphyseal dysplasia CHORUS

Description: * autosomal dominant
* retinal detachment -> blindness
findings:
  1. delay in ossification
  2. vertebral bodies: decreased height, anterior hypoplasia at T-L jx
  3. incompletely ossified odontoid process
  4. supernumerary epihyseal ossification centers of metacarpals (esp. 1st, 2nd) -> excessive elongation (also in cleidocranial dysostosis)
  5. pelvis: horizontal acetabular roofs, slow ossification of acetabulum and femoral head -> fossae appear empty, varus deformity of femoral neck