Weill-Marchesani syndrome

Abstract

Marehesani syndrome consists essentially of shortness of stature, spherophakia and other eye abnormalities and brachydactyly. It is probably an inherited disease of unknown etiology manifesting itself in organs of mesodermal origin.Investigations of a patient with the full picture of the syndrome revealed normal growth hormone levels following insulin and glucagon stimulation as well as normal thyroid function. Karyotypy was also normal. Intelligence was average for the patient's age.