Searchable abstracts of presentations at key conferences in endocrinology

ea0035p795 | Paediatric endocrinology | ECE2014

A case of velocardiofacial syndrome with short stature associated with partial GH deficiency

Planton Emilia , Rusu Cristina , Mogos Voichita , Branisteanu Dumitru

Introduction: Velocardiofacial syndrome (VCFS) also known as DiGeorge or chonotruncal anomaly face syndrome, is a rare genetic disease caused by a microdeletion in the long arm of chromosome 22, having a prevalence of approximately 1:7000 to 1:4000. VCFS has a wide spectrum of more than 200 physical manifestations including: cleft palate, heart and facial abnormalities, eye pathology, problems with feeding, including nasal regurgitation, middle-ear infections (otitis media), l...