Verloes proposed diagnostic criteria for the CHARGE syndrome. The authors is from Hopital Robert Debre in Paris.
Patient selection: possible CHARGE syndrome
Major criteria (3 C’s)
(1) coloboma (iris or choroid) with or without microphthalmia
(2) choanal atresia
(3) hypoplastic semi-circular canals
where:
• The criteria of Blake et al refer to the 4 C’s.
Minor criteria:
(1) rhomboencephalic dysfunction (neurosensory deafness, cranial nerve palsies for VII to XII, brainstem dysfunction)
(2) hypothalamic-hypophyseal dysfunction (deficiency growth hormone and/or gonadotrophin, other)
(3) abnormal middle or external ear
(4) malformations of mediastinal organs (heart, esophagus)
(5) mental retardation
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Major
|
Minor
|
Diagnosis
|
|
3
|
NA
|
typical
|
|
2
|
>= 2
|
typical
|
|
2
|
1
|
partial or incomplete
|
|
2
|
0
|
atypical
|
|
1
|
>= 3
|
atypical
|
