IMPE Abstracts

Septo‐optic dysplasia (SOD) or Morsier's syndrome is a congenital developmental anomaly of the brain that could present absent of septum pellucidum and corpus callosum, optic nerve hypoplasia and pituitary hypoplasia. Gene variants of the transcription factors HESX1 SOX3, SOX2, and OTX2 had been described in SOD. The two latter are also causatives genes of anophthalmia. Craniopharyngioma (CP) is a tumor with low histological grade, the association to unilateral anoph...

Introduction: Short Stature (SS), defined as height below -2 SD, is a common reason for referral to pediatric endocrinologists. Genetic factors determine ~80% of adult height. Lately, next-generation sequencing (NGS) has led to the discovery of an increasing number of novel monogenic causes for SS.Objective: The aim of this work was to identify the genetic etiology of SS of unknown origin (SSUO) in children.<p class=...

Introduction: Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction, relative macrocephaly and protruding forehead in early life, body asymmetry and feeding difficulties. Although several genetic mechanisms that cause the syndrome are known, more than 40% of patients with an SRS-like phenotype remains without an etiological diagnosis. In the last few years, clinical reports have suggested that single...