All issues > Volume 20(4); 1977

Case Report

J Korean Pediatr Soc. 1977;20(4):298-302. Published online April 30, 1977.

A Case of Pycnodysostosis.

Soon Je Lee¹, Cheong Soong Kim¹, Won Jae Park¹, Yung Jo Kwon¹

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.

Keywords :