Pycnodysostosis: A case report / 대한정형외과학회잡지
The Journal of the Korean Orthopaedic Association
;
: 839-842, 1977.
Article
in Korean
| WPRIM
| ID: wpr-767348
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Skeleton
/
Skull
/
Incidental Findings
/
Pycnodysostosis
/
Kidney Failure, Chronic
/
Numismatics
Type of study:
Diagnostic study
Limits:
Female
/
Humans
Language:
Korean
Journal:
The Journal of the Korean Orthopaedic Association
Year:
1977
Type:
Article
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