Three families, each having one to several members affected with Schmid-Fraccaro syndrome, a partial trisomy of the G chromosome, were examined ophthalmologically. The most common manifestations are colobomas of the iris and choroid, and imperforate anus. Other ocular manifestations found in our patients and in those described in the literature are microphthalmos, strabismus, hypertelorism, antimongoloid slant of the palpebral fissures, and cataract. The most important additional nonocular anomalies are of the urinary tract and heart. The manifestations of the syndrome found in our patients and in those described in the literature are variable.
Petersen RA. Schmid-Fraccaro Syndrome ("Cat's Eye" Syndrome): Partial Trisomy of G Chromosome. Arch Ophthalmol. 1973;90(4):287–291. doi:10.1001/archopht.1973.01000050289007
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