hrp0092p1-228 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Broadening of the Phenotypic Spectrum of Coats Plus Syndrome: A Patient Presenting with Extreme Short Stature as a Hallmark Feature

Riquelme Joel , Mericq Veronica , Pena Fernanda , Boogaard Merel W. , van Dijk Tessa , van Duyvenvoorde Hermine A. , Wit Jan-Maarten , Losekoot Monique

Background and Aims: Coats plus syndrome (MIM # 612199) is a highly pleiotropic disorder particularly affecting brain, eye, bone and gastrointestinal tract. We describe the phenotype of a patient with severe growth failure where whole exome sequencing (WES) revealed compound heterozygosity for two mutations in the CTC1 gene.Patient and Methods: The patient, the fourth child of healthy non-consanguineous parents, was born...