title: [Fechtner syndrome, a nonmuscle myosin heavy chain 9 gene mutation related disease: a case report and literature review].
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Docimology, The Second Hospital of Hebei Medical University, Shijiazhuang 050051, China.
authors.forename: Rui
authors.initials: R
authors.lastname: Hu
authors.forename: Ji-hong
authors.initials: JH
authors.lastname: Hao
authors.forename: Hong-le
authors.initials: HL
authors.lastname: Yang
authors.forename: Yun
authors.initials: Y
authors.lastname: Zhu
authors.forename: Shun-yi
authors.initials: SY
authors.lastname: Li
authors.forename: Jie
authors.initials: J
authors.lastname: Zhao
authors.forename: Feng-ru
authors.initials: FR
authors.lastname: Lin
authors.forename: Zhi-yun
authors.initials: ZY
authors.lastname: Niu
mesh_terms: D006319:Hearing Loss, Sensorineural / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020409:Molecular Motor Proteins / Q000235:genetics*; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D009394:Nephritis, Hereditary / Q000209:etiology / Q000235:genetics*; D013921:Thrombocytopenia / Q000209:etiology / Q000235:genetics* / Q000151:congenital
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains