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Journal of Bone and Joint Surgery, 1973;55:814-820.
© 1973 by The Journal of Bone and Joint Surgery, Inc

Multiple Epiphyseal Dysplasia

REPORT OF A PEDIGREE

MICHAEL C. MURPHY M.D.1, IAN B. SHINE M.D.1, and DAVID B. STEVENS M.D.1

1 From the Department of Community Medicine, University of Kentucky Medical Center, Lexington

Six generations of one family with multiple epiphyseal dysplasia were evaluated with identification of twenty-four affected individuals. The genetic mechanism was established to be an autosomal dominant with complete penetration. Paresthesias, transitory paraplegia of the legs, unusual hypothenar dermatoglyphic patterns, osteochondritis dissecans, and Blount-Barber disease were noted in association in one or more family members. The roentgenographic sign of the slanted ankle joint appeared to be a new sign not previously described. Unusually good roentgenograms in follow-up showed a normal appearing neonate with gradual progression to the full blown syndrome as the skeletal structures matured.


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