A comparative study of pycnodysostosis, cleidocranial dysostosis, osteopetrosis and acro-osteolysis

Abstract

A radiological study of cases of pycnodysostosis, osteopetrosis, cleidocranial dysostosis and acro-osteolysis revealed an interwoven relationship as regards the X-ray findings with numerous identical signs that these conditions had in common. Open fontanelles and sutures as well as metopic sutures were found in all 4 conditions; wormian bones, diminution or complete loss of mandibular angles, and hypoplastic paranasal sinuses and facial bones were noted in cleidocranial dysostosis, pycnodysostosis and acro-osteolysis. Undertubulation of .Iong bones is seen in cleidocranial dysostosis and osteopetrosis. Osteopetrosis and pycnodysostosis show sclerosis of bone, dense orbital margins, fractures after minimal trauma with abundant callus and rapid healing in common, while there is absorption of terminal phalanges and disturbance in the development of the teeth in both pycnodysostosis and acro-osteolysis. Furthermore, a review of the literature shows bonewithin-bone appearance in cleidocranial dysostosis and osteopetrosis, defective clavicles in cleidocranial dysostosis and pycnodysostosis and erosion of the distal phalanges of the feet and hands in osteopetrosis, pycnodysostosis and acro-osteolysis.

S. Afr. Med. J., 48, 1011 (1974).