Ring

The physical findings of ring formation of chromosome 18 overlaps both the short arm and long arm deletion syndromes, although the manifestations are usually less severe than the monosomy 18 syndromes (see earlier). Ophthalmic features include epicanthus, hypertelorism, strabismus, nystagmus, blepharoptosis, colobomatous microphthalmia, and cyclopia.78'156'190,208 Yanoff et al. histopathologically studied the eyes in the case of cebocephaly with a ring 18, and bilateral microphthalmia with cyst, intrascleral cartilage, intrachoroidal smooth muscle, and other anomalies were evident; however, no recognizable components of the optic system could be identified.400

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