AN UNUSUAL CASE OF BRACHYDACTYLY

PERIPHERAL DYSOSTOSIS? PSEUDO-PSEUDO-HYPOPARATHYROIDISM? CONE EPIPHYSES?

¹ From Department of Radiology, University of Washington Hospital, Seattle, Washington

A patient with an unusual type of brachydactyly is described. Although most bones of the hands and feet demonstrated diminished longitudinal growth, there were a few which were normal. Growth disturbances were present in other bones, both in the axial and appendicular areas. Similar cases in the literature described as "peripheral dysostosis" also had, on close inspection, some central growth disturbances.

The patient's bone anomalies are also discussed with reference to so-called "pseudo-pseudo-hypoparathyroidism"; this diagnosis is thought not to be appropriate because there was no personal or familial history to suggest present or prior pseudohypoparathyroidism. There was also no evidence of a familial brachydactyly.

The origin of the shortened phalanges is discussed in relation to the condition called "cone epiphyses," which is in itself not necessarily abnormal.

Our case represents an anomaly which transcends the spectrum of normal variations and finds its place in the limbo of chondro-osseous dysplasias.

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