hrp0092rfc12.5 | Growth and Syndromes (to include Turner syndrome) | ESPE2019

Cognitive and Neuroradiological Assessments in Silver Russell Patients

Patti Giuseppa , De Mori Letizia , Tortora Domenico , Savina Severino Maria , Calevo Mariagrazia , Morana Giovanni , Rossi Andrea , Casalini Emilio , Napoli Flavia , Di Iorgi Natascia , Maghnie Mohamad

Silver-Russell syndrome (SRS) is an epigenetic disorder characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features. The most common genetic abnormalities are 11p15 ICR1 loss of methylation, (11p15 LOM) and maternal uniparental disomy of chromosome 7 (mUPD7). There is little information on cognitive development in SRS patients and no neuroradiological studies are available so far. Global developmental delay and requirement for speech t...

hrp0089p1-p025 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Intrauterine Growth Restriction, Antenatal Steroids, Gestational Age and Breast Feeding Influence Bone Health in Prepubertal Children Born Preterm

Iorgi Natascia Di , Calcagno Annalisa , Diana Paola , Notarnicola Sara , Allegri Anna Maria Elsa , Napoli Flavia , Cangemi Giuliana , Calevo Mariagrazia , Ramenghi Luca , Maghnie Mohamad

Objectives: To assess the long-term impact of prematurity on bone and body composition by using Dual-energy X-ray absorptiometry (DXA).Methods: DXA scans were performed in 100 preterm (PT) (n=42F, n=58M, mean weeks’gestation 31.5±2.6; range 26−36) and 51 born at term (BT) healthy infants (n=28F, n=23M). DXA measures of total body and lumbar spine mineral density (TB/L1-L4 BMD, g/cm2 and Z...