ESPE Abstracts

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...

Background: Primordial dwarfism (PD) is a phenotype characterized by profound growth retardation and microcephaly that is prenatal in onset. Recently mutations in genes involved in ciliogenesis have been described in patients with primordial dwarfism phenotype. In 2012 mutations in rotatin (RTTN), a protein involved in cilia structure and function, have been described in in individuals with bilateral diffuse polymicrogyria, but not growth failure.Case pr...