J Korean Orthop Assoc.  1977 Dec;12(4):839-842. 10.4055/jkoa.1977.12.4.839.

Pycnodysostosis: A case report

• Ha KI
• Chang JK
• Kim JH

• KMID: 2460691
• DOI: http://doi.org/10.4055/jkoa.1977.12.4.839

Abstract

Maroteaux and Lamy coined the term Pycnodysostosis derived from the Greek, Pycnos (thick or dense), Dys (defective), and Ostosis (bone). 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 pycondysostosis with chronic renal failure in 12 years old girl.

MeSH Terms

Female
Humans
Incidental Findings
Kidney Failure, Chronic
Numismatics
Pycnodysostosis*
Skeleton
Skull