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CHARGE syndrome
CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
Eyelid coloboma
A short discontinuity of the margin of the lower or upper eyelid.
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PMID (PMCID)