Orthopedical problems in Ellis-van-Crefeld-syndrome

Introduction/Intention. Since the first description of "Chondroectodermal D ysplasia" in 1940 by Ellis and van Creveld quite a few publications on this rare syndrome were published, but none with a differential concept of trea tment, especially concerning orthopedic problems. The purpose of this study was to find out whether: 1. Axial deviations occur after operative treatment. 2. Secondary arthrosis is based on the pathology of the syndrome. 3. A concerted concept of treatment based on our own experience can be init iated. Patients/Method. This is a retrospective study of eight patients with EvC s yndrome with a follow-up over 30 years (1962-95) using all relevant data of clinical findings, radiographs, and operation protocolls. Results. Axial d eviations of the leg caused by valgus deformity of the three major joints o f the lower extremity were found. Structural change in the bone were mostly noted by enlargement of femoral epi- and -metaphysis, cup-like deformity o f the lateral epi- and metaphysis of the tibiae, osteochondroma of the medi al tibial metaphysis, carpal polydactylias, and synostoses. For correction of these axial deviations of the leg operations rather than splints were performed. Recurrances after correction-osteotomies were not f ound. Paediatric problems were mainly congenital atrial septal defects of the hea rt (n=5),which were corrected operatively in two cases. Furthermore two pat ients with hypospadia had to undergo surgery. Conclusions. "Recidives" of operative axial deviations were found to be an inadequate primary correction. Secondary arthrosis is the result of subopti mal primary corrective procedures. Therapeutic regimen: Patients should hav e paediatric examinations to be aware of organic dysplasia, especially of t he heart, prior to orthopaedic operations. An orthopedic therapeutical algo rithm is postulated.