Objective: To improve the recognition of Fechtner syndrome.
Methods: The clinical and laboratory data and family survey of a patient with Fechtner's syndrom was reported.
Results and conclusion: Giant platelets, thrombocytopenia and characteristic granulocyte inclusion bodies (Döhle-like bodies) were found in both peripheral blood and bone marrow smears of the patient. Clinically the patient had renal damage, nervous deafness, and vitreous lesions. There was a family genetic tendency on family survey the diagnosis of Fechtner syndrome is established.