hrp0089p2-p274 | Growth & Syndromes P2 | ESPE2018

KBG Syndrome: Our Experience and Unreported Clinical Features

Scarano Emanuela , Tassone Martina , Tamburrino Federica , Graziano Claudio , Perri Annamaria , Stefanelli Francesca , Vestrucci Benedetta , Mazzanti Laura

KBG syndrome (OMIM 148050) is a an emerging autosomal dominant disorder caused by heterozygous mutations in the ANKRD11 gene or deletions of 16q24.3, characterized by developmental delay, short stature, dysmorphic facial features and skeletal anomalies. Patients and methods: We report 22 patients with dysmorphic features, learning disabilities, behavior problems and macrodontia, where a clinical diagnosis of KBG was suspected. An ANKRD11 defect was confirmed in 12 patients. In...

hrp0095p1-51 | Diabetes and Insulin | ESPE2022

Health-related quality of life and metabolic control in children and young patients with type 1 diabetes and in their parents before and after the COVID-19 lockdown.

Predieri Barbara , Bruzzi Patrizia , Candia Francesco , Caccamo Paola , Sandoni Marcello , Stefanelli Francesca , Pugliese Marisa , Lucaccioni Laura , F. Madeo Simona , Iughetti Lorenzo

Introduction: Italy was the first EU country to be affected by COVID-19 outbreak. The sudden change in everyday life was challenging for children and young people (CYP) who rely heavily on peer connections for emotional and social support. Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To compare the diabetes-specific health-related quality of life (D-HRQOL) of CYP with T1D and their parents...