Uruguay facio-cardio-musculo-skeletal syndrome: A novel X-linked recessivedisorder

We report on three male patients from a single family with a brachyturricep haly, "pugilistic" facial appearance, a muffled voice, cardiomyopathy, musc ular hypertrophy, broad hands, wide feet with progressive pes cavus deformi ties, dislocation of toes, variable congenital hip dislocation, and scolios is, Three other males in the family, now deceased from cardiac disease, app ear to have had the same disorder. The mother of the propositus has milder signs of the syndrome. All affected males are related through the maternal line, These cases represent an apparently previously undescribed X-linked r ecessive syndrome.