FIGURE 1.
Clinical spectrum of MYH9-related disease. MATINS: MAcroThrombocytopenia and granulocyte Inclusions with or without Nephropathy or Sensorineural hearing loss. Fechtner syndrome: macrothrombocytopenia, granulocyte inclusions, nephropathy, sensorineural hearing loss, cataracts. Epstein syndrome: macrothrombocytopenia, granulocyte inclusions, nephropathy, sensorineural hearing loss. Sebastian syndrome and May–Hegglin anomaly: macrothrombocytopenia and granulocyte inclusions. Granulocyte inclusions visible in May-Grünwald-Giemsa-stained blood smears (Döhle bodies) in the May–Hegglin anomaly differ ultrastructurally from those in Sebastian syndrome, but both stain with anti-heavy chain of non-muscle myosin IIA antibodies. Deafness AD 17: Deafness Autosomal Dominant 17. GI: granulocyte inclusions; MT: congenital macrothrombocytopenia (more than 40% of platelets are >3.9 µM in diameter); GN: glomerular nephropathy; HL: hearing loss, C: cataracts.