HIRSUTISM SKELETAL DYSPLASIA MENTAL-RETARDATION SYNDROME WITH ABNORMAL FACE AND A URIC-ACID METABOLISM DISORDER

We report on a German boy, born to nonconsanguineous parents, with an apparently new combination of multiple congenital anomalies including extraordinary hirsutism, marked brachycephaly, abnormal position of th umbs, pedes excavati with claw-toes, an abnormal face, and mental reta rdation. Additionally the boy manifests a disorder of uric acid metabo lism. This sporadic case may represent a new syndrome due to a fresh a utosomal or X-linked mutation, or chance-isolated case due to segregat ion of an autosomal recessive gene.