We report on a case of Floating-Harbor syndrome, complicated by tethered cord and discuss the possibility that growth hormone therapy may contribute to the development of symptoms of this malformation.
This study shows for the first time that MRI pituitary morphology may correlate with the etiology of severe IGHD: normal morphology suggests the presence of GH-1 gene mutations, while severe hypoplasia with malformation have other causes which might include so far unknown genetic defects as well as traumatic insults.