Three members of a family with 'cat eye' syndrome showed deletion and partial trisomy syndrome of chromosome 22. There was no iris coloboma in the 3 cases. Anal atresia was seen in 1. Characteristic preauricular fistulae, antimongoloid palpebral fissures, epicanthus folds, a slight hypertelorism and mental retardation were observed in 2 patients. Divergent and vertical strabismus were observed in all 3 patients with paretic signs and with V or X syndrome. Congenital dismetric nystagmus was found in 1 case and ocular torticollis in 2 cases.
ASJC Scopus subject areas
- Sensory Systems