hrp0086p1-p605 | Growth P1 | ESPE2016
, Luongo Caterina
, Nacca Raffaella
, Sasso Marcella
, Grandone Anna
, del Giudice Emanuele Miraglia
, Perrone Laura
Background: IGF1R mutations are characterized by IGF-1 resistance causing impaired fetal and postnatal growth. Several reports in children with heterozygous defects of IGF1R have demonstrated a variable phenotype, which can be associated to microcephaly, dismorphic features and mild developmental delay.Case presentation: We report of an 8-years-old boy, who came at our observation with short stature (−3.2 SDS) and mild microcephal...