OCCIPITAL HORN SYNDROME - REPORT OF A PATIENT AND REVIEW OF THE LITERATURE

We report an 18-year-old boy with occipital horn syndrome and we revie w the 20 cases previously published with this syndrome. The distinctiv e features common to ah patients were unusual facial appearance, skele tal abnormalities, chronic diarrhea and genitourinary abnormalities. T he skeletal abnormalities included occipital horns, short, broad clavi cles, deformed radii, ulnae, and humeri, narrowing of the rib cage, un dercalcified long bones with thin cortical walls and coxa valga. Occip ital horn syndrome is inherited in an X-linked recessive fashion. Our analysis indicates that occipital horn syndrome is associated with a r ecognizable characteristic phenotype.