DOI: 10.36347/sjmcr.2018.v06i03.006

Pages: 136-138

Cat eye syndrome (CES) is a rare disease caused by a chromosomal abnormality with the presence of a small additional chromosome from chromosome 22. It is characterized by a variable association of congenital malformations of which the best known are anal atresia and coloboma of the iris. The colobome, whose appearance recalls the shape of the pupil of the cat, gave its name to the syndrome. Clinical heterogeneity is important. Growth hormone deficiency affects between 1 in 3,000 children and 1 in 4,000 children. Most often, it is idiopathic. Rarely, it is due to a genetic disease or underlying chromosomal abnormality. The association of growth hormone deficiency with Cat-Eye syndrome is very rare. Both a potential link between 22q11 abnormalities and malformations of the uterus has been difficult to determine correctly given the limited case in the literature. We report the case of a patient with growth retardation, primary amenorrhea and a polymalformative syndrome suggestive of Cat-Eye syndrome