Pycnodysostosis: A case report
10.4055/jkoa.1977.12.4.839
- Author:
Kwon Ick HA
;
Jin Kwan CHANG
;
Jai Ho KIM
- Publication Type:Case Report
- MeSH:
Female;
Humans;
Incidental Findings;
Kidney Failure, Chronic;
Numismatics;
Pycnodysostosis;
Skeleton;
Skull
- From:The Journal of the Korean Orthopaedic Association
1977;12(4):839-842
- CountryRepublic of Korea
- Language:Korean
-
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.
