Nail - Patella Syndrome / 대한피부과학회지

ABSTRACT

The nail-patella syndrome is a genetically determined autosomal dominant disease with variabIe expression affectiag tissues of both ectodermal and mesodermal origin. The condition in an individual is characterized chiefly by dysplasia of the fingernails, hypoplastic or absent patellae, deformities or luxation af the head of the radius, and the presence of illiac horns. It is now well established that the locus for the nail-patella syndrome and the locus for the ABO blood groups are closely linked. We report 2 cases of nail-patella syndrome affected a brother and a sister in a family. Our 2 cases, with blood group B, showed dystrophic nails and hypoplastir. patellae.