ESPE Abstracts

Introduction: Very short stature is a common presenting complain that gives rise to numerous investigations. FBN1 heterozygous mutations cause acromelic dysplasia syndromes. The phenotypic spectrum of these growth disorders is broad, ranging from short stature with short extremities, stiff joints, skin thickening with tracheal stenosis and cardiac valvulopathy to nearly isolated short stature. Here, we report on a girl with disproportionate short stat...