Parana Hard-Skin Syndrome

Cat et al. (1974) described a new syndrome in 8 persons in 7 Brazilian families living in a restricted area of southern Parana. Two were brothers and the parents of another were first cousins. Beginning at the age of 2 or 3 months, the skin of the entire body becomes progressively thicker. All joints gradually become frozen and movement of the chest and abdomen is severely restricted. Respiratory insufficiency may lead to death. The disorder is probably distinguishable from the stiff-skin syndrome (184900) by the severe growth retardation, more malignant course, and probable mode of inheritance.