Multiple Epiphyseal Dysplasia

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.