[Type III osteogenesis imperfecta associated with hypophosphatemic vitamin D-resistant rickets]

In a 7 year old girl presenting with bone deformities, dwarfism, and a history of recurrent fractures osteogenesis imperfecta had been diagnosed at birth. Although she had been hospitalized several times, radiologic signs of rickets remained unnoticed. Laboratory data proved existence of hypophosphatemic vitamin D-resistant type of rickets, which was effectively treated with 1 alpha-hydroxycholecalciferol and phosphorus substitution. The combination of osteogenesis imperfecta type III and hypophosphatemic rickets may be coincident. It proves, however, the necessity to consider the possible simultaneous occurrence of two rare diseases. The therapeutic consequences could be important.