[Fechtner syndrome, a nonmuscle myosin heavy chain 9 gene mutation related disease: a case report and literature review]

To improve the recognition of Fechtner syndrome.The clinical and laboratory data and family survey of a patient with Fechtner's syndrom was reported.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.