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Multiple Epiphyseal Dysplasia REPORT OF A PEDIGREE
MICHAEL C. MURPHY; IAN B. SHINE; DAVID B. STEVENS
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From the Department of Community Medicine, University of Kentucky Medical Center, Lexington
1973 by The Journal of Bone and Joint Surgery, Incorporated
The Journal of Bone & Joint Surgery.  1973; 55:814-820 
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Abstract

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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    These activities have been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint sponsorship of the American Academy of Orthopaedic Surgeons and The Journal of Bone and Joint Surgery, Inc. The American Academy of Orthopaedic Surgeons is accredited by the ACCME to provide continuing medical education for physicians.
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