hrp0086p2-p853 | Syndromes: Mechanisms and Management P2 | ESPE2016

A 3-year-old Boy with Growth Hormone Deficiency and Clinical Features of Ritscher–Schinzel Syndrome

Galcheva Sonya , Iotova Violeta , Bocheva Yana , Stoeva Iva , Tincheva Radka , Georgiev Radoslav , Marinov Lachezar

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome is a very rare recently delineated disorder with Dandy-Walker malformation, congenital heart defects and dysmorphic craniofacial features; however, the full spectrum of this disorder has not been determined.Objective and hypotheses: To present a patient with short stature and growth hormone (GH) deficiency as a part of the clinical manifestations of Ritscher-Schinzel syndrome.<p class="abstext...