Pyknodysostosis

Case contributed by Dr Andrew Dixon

Presentation

Child initially presented with short stature. All images presented in this case were obtained at age 9 except for the CT of the skull which was performed at age 7.

Patient Data

Age: 9
X-ray
MRI
CT

Case Discussion

There is generalised osteosclerosis with narrowing of the medullary cavity. The fingers are short and stubby and there is partial agenesis / aplasia of terminal phalanges simulating acroosteolysis.  When compared to a reference standard there is a two year delay in hand bone age. There is an incompletely healed transverse fracture of the tibial shaft.  The cranial sutures, which should be nearly completely fused at this age remain widely open.  There is a triangular shape to the frontal cranium (trigonocephaly) due to relative early fusion of the metopic suture.  

These imaging findings are consistent with pyknodysostosis.

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Case information

rID: 10291
Case created: 2nd Aug 2010
Last edited: 4th Apr 2017
Inclusion in quiz mode: Included

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