Pyknodysostosis

Case contributed by Mark Holland
Diagnosis almost certain

Patient Data

Age: 7 years
Gender: Male
x-ray

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

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