Hand Deformities in Hajdu-Cheney Syndrome: A Case Series of 3 Patients Across 3 Consecutive Generations

Abstract

Hajdu-Cheney syndrome is a rare condition characterized by acro-osteolysis, osteoporosis, and multiple craniofacial anomalies. The goal of treatment is to reduce the associated symptoms and to prevent osteoporotic fractures. This is a report of 3 patients across consecutive generations demonstrating variable phenotypic severity. The hand surgeon was the first medical care provider visited by the patients because of the shortening of the fingers.

Keywords: Acro-osteolysis; Hajdu-Cheney syndrome; bone resorption; osteoporosis; wormian skull bones.