Marden-Walker syndrome in two siblings

Two siblings are reported who have features of the Marden-Walker syndrome. They have congenital joint contractures, camptodactyly, talipes equinovarus, abnormal facies, global delay in developmental milestones, hypotonia and failure to thrive. About 20 cases have been reported in the world literature. A summary of some of the cases is presented. This syndrome appears to be an autosomal recessive trait in some families.