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濃縮異骨症 1例 報告 Pycnodysostosis

대한정형외과학회지 1977년 12권 4호 p.839 ~ 842
河權益, 金在浩, 張鎭寬,
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河權益 (  ) 
國立警察病院 整形外科

金在浩 (  ) 
國立警察病院 整形外科
張鎭寬 (  ) 
國立警察病院 整形外科

Abstract


Maroteaus and Lamy coined the term Pycnodysostosis derived from the Greek, Pycnos Cthick or dense, Dys Cdefective~, and Ustosis Cbone~. The principal characters of this syndrome are short stature, dysplasis of the skull, obtuse manibular angle, dysplastic clavicles, partial or total aplasia of the terminal phalanges, and generalized increased roentgenographic density of the skeleton. Patient so affected are predisposed to fracture. Pycnodysostosis seems to be a genetic disorder, inherited as an autosomal recessive trait.
Here, it is reported a case of incidental finding of pyoondysostosis with chronic renal failure in 12 years old girl.

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