ESPE Abstracts

Background: Microdeletions of the chromosomal region 2q31.1 are rare. Growth retardation is reported in the majority of these patients, but information about growth hormone status is not given in the literature. Other typical features in 2q31.1 deletion syndrome are developmental delay, limb abnormalities, short palpebral fissures, heart defects, among others.Objective and hypotheses: A 12 year old girl presented at the age of 7 years with severe growth ...