hrp0098p3-160 | Growth and Syndromes | ESPE2024
Toulia Ilektra
, Savvidou Parthena
, Ververi Athina
, Kosta Konstantina
, Grammatikopoulou Maria
, Vamvakis Anastasios
, Theodosiadi Aikaterini
, Antachopoulos Charalampos
, Tsiroukidou Kyriaki
Background: Silver-Russell Syndrome (SRS) is a clinically heterogenous syndrome, characterized by intrauterine and postnatal growth retardation, distinct facial features, relative macrocefaly at birth and body asymmetry later in life, in combination with other malformations. Feeding difficulties, hypoglycemia and speech delay may appear. SRS diagnosis is clinical, according to the Netchine–Harbison clinical scoring system. Only 60% of cases are genetical...