Frontofacionasal dysplasia

A rare congenital malformation characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).

Upper eyelid coloboma

A short discontinuity of the margin of the upper eyelid.


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PMID (PMCID)