Cat-eye syndrome

Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

Total: 3

(per page)

PMID (PMCID)
23928108	FEMALE	Infant
	Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.
	Melo C, Gama-de-Sousa S, Almeida F, Rendeiro P, Tavares P, Cardoso H, Carvalho S. Gene. 2013;529(1):186-9.
	A review on short stature and growth hormone deficiency in cat eye syndrome is conducted.
23928108	FEMALE	Infant
	Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.
	Melo C, Gama-de-Sousa S, Almeida F, Rendeiro P, Tavares P, Cardoso H, Carvalho S. Gene. 2013;529(1):186-9.
	We report a girl with cat eye syndrome, presenting short stature, with growth hormone deficiency due to posterior pituitary ectopia.
9840707	MALE
	Cat eye syndrome with hypogonadotropic hypogonadism.
	Masukawa H, Ozaki T, Nogimori T. Intern Med. 1998;37(10):853-6.
	A 17-year-old male diagnosed as having Cat Eye Syndrome (CES) with hypogonadotropic hypogonadism showed short stature and no development of secondary sex characteristics.