hrp0097p1-521 | Growth and Syndromes | ESPE2023
, Xatzipsalti Maria
, Lazaros Leandros
, Nitsos Nikolaos
, Stamogiannou Lela
Introduction: Silver-Russell syndrome 5 (SRS5) is characterized by asymmetric intrauterine growth restriction (IUGR), poor postnatal growth, macrocephaly at birth and feeding difficulties. Other possible features include triangular shaped face, prominent forehead, hypertelorism, epicanthus, micrognathia, brachydactyly, clinodactyly of the 5th hand finger, and syndactyly of the 2nd and 3rd toe fingers. Pathogenic variants of the HMGA2 gene, on chromoso...