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KMID : 0361619770120040839
Journal of the Korean Orthopaedic Association
1977 Volume.12 No. 4 p.839 ~ p.842
Pycnodysostosis



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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