spondyloepiphyseal dysplasia

• autosomal dominant

• retinal detachment -> blindness

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

© 2002, C.E. Kahn, Jr.
2002-04-18