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Musculoskeletal system

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spondyloepiphyseal dysplasia


  • 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


Brian Funaki, MD  -  6 February 1995
Last updated:  1 October 2013


 

Related CHORUS documents:
hemophilia
acute pancreatitis
achondroplasia
cleidocranial dysostosis
progeria (Hutchinson-Gilford) syndrome
diastrophic dwarfism

 

Copyright © 2013, Charles E. Kahn, Jr.