J Korean Pediatr Soc.  1977 Apr;20(4):298-302.

A Case of Pycnodysostosis

Affiliations
  • 1Department of Pediatrics, National Police Hospital, Korea.

Abstract

A case of pycnodysostosis in 12 years old girl was presented with a brief review ofliterature. This patient was admitted to our pediatric dept. of N.P.H. with chief complaints of loss of appetite and respiratory difficulty. She was characterized by a peculiar face with anterior bossing, exophthalmos, opened anterior fontanel and coronal suture and dwarfism. So bone series was performed and showed character of pycnodysostosis such as opened anterior fontanel and coronal suture, receding mandibular angle, inoreased bone density with narrowing bone marrow and acrcosteolytica on distal phalanx. But she died on the 25 th hospital day due to chronic renal failure.


MeSH Terms

Appetite
Bone Density
Bone Marrow
Child
Cranial Fontanelles
Dwarfism
Exophthalmos
Female
Humans
Kidney Failure, Chronic
Pycnodysostosis*
Sutures
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