Abstract

A small number of cases have been described of Craniodiaphyseal Dysplasia including early “leontiasis ossea” with progressive bony encroachment of skull foramina leading to severe neurological impairment in the first decade. Total thyroidectomy to remove a suspected source of excessive calcitonin was carried out in the only previous case where therapy was attempted. We report the case of the daughter of a Chief Petty Officer who presented with choanal stenosis at birth and who died at age 7 years with massive hyperostosis and sclerosis especially involving the skull and facial bones. Partial responsiveness of this condition to therapy with synthetic human calcitonin was suggested by a fall in the velocity of increase in her head circumference and changes in serum total and bone isoenzyme alkaline phosphatase. Management of the metabolic, neurological and social aspects of this condition is discussed.