Table 1 Blake and Verloes diagnostic criteria
From: A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis
MAJOR CRITERA | MINOR CRITERIA | DIAGNOSIS | |
|---|---|---|---|
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 |