Neurofibromatosis type 1 is mainly diagnosed clinically. Neurofibromatosis type 1 is usually diagnosed early on in childhood. Genetic testing may be necessary in difficult cases.
Neurofibromatosis type 1 diagnostic study of choice
Cowden syndrome diagnostic study of choice
Peutz-Jeghers syndrome diagnostic study of choice
Tuberous sclerosis echocardiography or ultrasound
Cretinism echocardiography or ultrasound
Sheehan's syndrome echocardiography or ultrasound
Neurofibromatosis type 1 physical examination
Paget-Schroetter disease echocardiography or ultrasound