ESPE Abstracts

Introduction: Brachydactyly is defined as shortening of metatarsal and metacarpal bones. There are different types of brachydactyly which can be isolated or associated with syndromes. The underlying gene defect has been identified in the majority of isolated brachydactylic and some syndromic forms. We herein report a Saudi male patient who presented with brachydactyly and short stature and found to have a rare form of skeletal dysplasia related to PTHLH gene m...