hrp0097p2-15 | Growth and Syndromes | ESPE2023

Autosomal dominant inherited VUS 3 in the fibrillin 2 gene in a patient with tall stature

Geyrhofer Angelika , Hirtenlehner Sandra , Gencik Martin

Background: The reasons for tall stature, defined as a height above the 97. percentile or above 2SD from the mean, are heterogeneous. Besides non-pathogenic forms like familial tall stature or constitutional advance of growth there are pathogenic forms like obesity, growth hormone excess, hyperthyreoidism, precocious puberty or some genetic disorders and syndromes that need to be concerned.Case Report: We report on a 14 ...