Biopsy is the gold standard and definitive test for diagnosis of<unk>  syndrome. The<unk>  criteria of<unk>  syndrome is based on the<unk>  syndrome/PHTS criteria which include Pilarski et al<unk>  criteria.
Cowden syndrome diagnostic study of choice
Neurofibromatosis type 1 diagnostic study of choice
Fanconi syndrome differential diagnosis
Noonan syndrome other diagnostic studies
Cretinism echocardiography or ultrasound
Boerhaave syndrome diagnostic study of choice
Primary ciliary dyskinesia diagnostic study of choice
Bartter syndrome other diagnostic studies