Absence of growth hormone in a child with cat-eye syndrome

Abstract

Background: The cat-eye syndrome (CES, Schmid-Fracarro syndrome) is a very rare syndrome involving Chromosome 22 (partial trisomy or tetrasomy). The syndrome is characterized by a variety of malformations with typically coloboma of the iris and malformations of the ears, the gastrointestinal tract, the kidneys and the heart associated with a short stature. Often one finds a mild to moderate metal retardation, severe retardations are very rare.