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Table 1 Blake and Verloes diagnostic criteria

From: A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis

 MAJOR CRITERAMINOR CRITERIADIAGNOSIS
Blake [5]Coloboma, microphthalmia
Choanal atresia
Ear abnormalities
Cranial nerve dysfunction
Cardiovascular malformations
Tracheoesophageal defects
Genital hypoplasia/delayed pubertal development
Cleft lip and/or palate
Developmental delay
Growth retardation
Characteristic face
Typical CHARGE
4 major criteria
3 major + 3 minor criteria
Verloes [8]Coloboma (iris or choroid)
Choanal atresia
Hypoplastic semicircular canals
Rhombencephalic dysfunction
Hypothalamo-hypophyseal dysfunction
Abnormal middle or external ear
Malformation of mediastinal organs
Mental retardation
Typical CHARGE
3 major criteria
2 major and 2 minor criteria Partial/incomplete CHARGE
2 major and 1 minor criteria
Atypical CHARGE
2 major criteria
1 major and 3 minor criteria