Elsevier

Clinical Radiology

Volume 18, Issue 3, January–October 1967, Pages 330-336
Clinical Radiology

Hereditary dysplasia epiphysealis multiplex

https://doi.org/10.1016/S0009-9260(67)80083-7Get rights and content

The authors describe 8 cases of Dysplasia Epiphysealis Multiplex (Ribbing-Fairbank type) in two generations of one family, caused by a dominant highly penetrant gene. The history suggests that a member of another generation was affected. In the adult members of the family, the signs and symptoms of the disease corresponded to the radiographic findings. The young patients showed slight or minimal disability in spite of severe, generalised radiographic changes.

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    *

    Present address—Pediatric Institute, X-ray Department, Krakow 26, Poland.

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