hrp0095p1-526 | Growth and Syndromes | ESPE2022

A Case of Short Stature Presenting with Multiple Exocytosis

Betul Kaygusuz Sare , Gokoglu Mustafa , Turan Serap

Objectives: Trichorinophalangeal syndrome (TRPS) is a cause of syndromic short stature; and is characterized by typical dysmorphology, ectodermal dysplasia, and skeletal findings. There are two types of TRPS; TRPS-I caused by monoallelic pathogenic variants in the TRPS1 gene, and TRPS-II caused by whole gene deletion. TRPS-II; also called Langer-Giedion Syndrome (LGS), in which multiple exocytoses can be seen in addition to typical TRPS features due t...

hrp0097p1-412 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Juvenile Paget's Disease: Evaluation of Novel Mutation and Treatment Response

Betul Kaygusuz Sare , Gokoglu Mustafa , Turan Serap

Introduction: Juvenile Paget's Disease(JPD) is an extremely rare disease of bone characterized by progressive painful bone deformities, fractures and increased bone turnover. Findings also include deafness, loss of vision, vascular calcification and aneurysm. Here, we report two siblings presented with recurrent fractures and diagnosed as JPD by very high alkaline phosphatase levels and radiographic findings. A novel homozygous mutation in the TNFRSF11B g...