Summary of clinical documentation of CHARGE diagnosis for the 10 subjects according to the criteria set by Verloes8

Subject
12345678910
SexMMFFMMMMFF
Age at MRI (yr)121811748 mo119
Major criteria
    Coloboma+++++
    Choanal atresia++
    SCC hypoplasia++++++++++
Minor criteria
    Rhombencephalic dysfunction+1,2+1,2+1+1,2+1,2+1+1+2+1,2
    Hypothalamohypophyseal dysfunction+3+4+4+3+4+4+4
    Malformation of ear+5,6+6+6+5,6+6+6+6+6+6+6
    Malformation of mediastinum+7+7+7+7+7+7+7,8+7
    Mental retardation+++++
    Typical CHARGE+++++
    Atypical CHARGE+++++
  • Note:— + indicates present criteria; +1, cochlear nerve hypoplastic or absent; +2, brain stem hypoplasia; +3, undescended testes; +4, growth delay; +5, external ear malformation; +6, inner ear malformation; +7, cardiac malformation; +8, tracheoesophageal fistula.