Rare Association of Cat Eye Syndrome and Mullerian Agenesis: Third Reported Case

Abstract

Introduction: Cat-eye syndrome is a rare genetic disease with extremely diverse phenotypes. Its most common manifestations include ocular coloboma, anal atresia, preauricular skin tags and pits. Case report: We report the third case of Cat-eye syndrome associated to Mullerian agenesis in a 28 years-old female, to highlight the possibility of a link between partial trisomy or tetrasomy of chromosome 22 (specifically of the region 22q11) and Müllerian agenesis. Discussion and Conclusion: In patients with CES, the short arm (p) and a small part of the long arm (q) of chromosome 22 are present three or four (trisomy or tetrasomy) times rather than twice in every cell of the organism. Schinzel et al, described in 1981 the first case of Cat eye syndrome associated to Mullerian agenesis in their series of 11 patients with CES. The second case of Müllerian agenesis in a patient with CES was reported by AlSubaihin et al. This rare association is suggesting that there may be genes in or near the 22q11 CES critical region that are important for normal mullerian development. Keywords: Cat-eye syndrome – Mullerian agenesis – Malformations – Genetic analysis