Pyknodysostosis

Case contributed by Mark Holland , 11 Oct 2012
Diagnosis almost certain
Changed by Dylan Kurda, 5 Feb 2016

Updates to Case Attributes

Race changed from Asian to .
Diagnostic Certainty was set to .

Updates to Study Attributes

Findings was added:

Generalised osteosclerosis and narrowed medullary cavity. Increase mandibular angle (obtuse). Fronto-parietal bossing. Wormian bones. Hypogenesis of the 1st, 2nd and 3rd fingers distal metaphases, bilaterally (resembling acro-osteolysis). Long bones metaphyseal flaring. 

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