Cat-Eye Syndrome: A Report of Two Cases and Literature Review

Cat-eye syndrome is a rare genetic disease that involves the proximal long (q) arm of chromosome 22. The classic clinical triad includes coloboma of the iris, ears, and anal malformations. This syndrome was named “cat eye” due to the vertical coloboma of the iris. However, the spectrum of clinical manifestations is variable, and the iris coloboma may be absent in 40-50% of cases. Association with congenital heart disease is also frequent and its diagnosis should raise suspicion of a genetic condition. We describe two cases of male infants affected by the cat-eye syndrome, of which no one presented the classic clinical triad. One of them had unpredictable complications that led to prolonged neonatal intensive care unit stay. Although having distinct phenotypes, the diagnosis in both cases was made through nonobstructive total anomalous pulmonary venous return, anal imperforation, and craniofacial anomalies. Iris coloboma was an important clue only in one of them. Prenatal diagnosis is a challenge, such that a genetic study is essential for a final diagnosis in the absence of the classic triad.