| Abstrakt: |
To the Editor:—Recently, I treated a 4-year-old white boy for a fracture of the distal tibia. The patient had blue sclerae and a history of multiple fractures associated with trivial trauma. Two of the patient's three siblings demonstrate blue sclerae or unusual tendency to sustaining fractures. His 26-year-old mother suffered repeated fractures of the extremities and clavicles as a child, and also has blue sclerae.The 12-year-old maternal uncle has blue sclerae, and has experienced frequent dislocations of the right shoulder as well as extremity fractures. A similar history can be traced to the maternal grandmother who demonstrated the cardinal signs of blue sclerae and multiple fractures from trivial insults.While this pattern of inheritance seems to exemplify the classic descriptions of osteogenesis imperfecta with its autosomal dominant, there is curiously enough a concomitant familial history of carcinoma which can be traced back to the great grandmother of this |
