MEDICAL COMPLICATIONS OF ACHONDROPLASIA - A MULTICENTER PATIENT REVIEW

Achondroplasia is the most :prevalent chondrodysplasia and numerous au thors have documented the varied social and medical complications that may compromise a full and productive life. Complications include cerv icomedullary compression, spinal stenosis, restrictive and obstructive lung disease, otitis media, and tibial bowing, among others. These kn own complications have led to recommendations for the anticipatory man agement of such patients. There are relatively few data on the actual rates and timing of these problems. This paper reports data on the rat es and age of occurrence of several of these complications based on a review of recorded chart information of 193 patients ascertained from several well established genetic centres with a known interest in the chondrodysplasias. The length of follow up varied and the rates of occ urrence at specific age intervals were used to estimate the cumulative percentage affected for each complication. The report includes inform ation on otitis media, ventilation tubes, hearing loss, tonsillectomy, speech problems, tibial bowing and osteotomy, ventricular shunting, a pnoea, cervicomedullary decompression, and neurological signs attribut able to spinal stenosis.