ESPE Abstracts

Introduction: Osteoporosis pseudoglioma syndrome (OPPG) is a rare autosomal recessive disease which is caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene and is characterized by severe early – onset osteoporosis and vitreoretinal complications leading to blindness by young adulthood.Case presentation: We present a case of an 8 years old boy, who was initially referred to our d...

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...

Background: Hyperprolinemia is a rare autosomal recessive disorder with two distinct types: I (HPI) and II (HPII). The clinical presentation varies widely, with some individuals remaining asymptomatic and others exhibiting neurological, renal or auditory defects and seizures. Pituitary Stalk Interruption Syndrome (PSIS) is a rare congenital pituitary defect, characterized by a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neuro...