Neurofibromatosis

Abstract

Recent advances in molecular genetics and biochemistry have defined the chromosomal abnormalities present in neurofibromatosis type 1 and type 2. The protein deficiency responsible for each syndrome has been identified. Unfortunately, this rapid progress in basic science has not yet produced an effective treatment for the underlying pathology. Patients and physicians must still deal with the various clinical manifestations and complications of neurofibromatosis; the orthopedic aspects are well known. Modern imaging does permit more effective evaluation of the patient and the particular problem so that treatments can be optimized and complications minimized.