Hajdu-Cheney syndrome: Evolution of phenotype and clinical problems

Hajdu-Cheney syndrome is a rare, autosomal dominant disorder comprising acr oosteolysis of the distal phalanges with associated digital abnormalities, distinctive craniofacial and skull changes, dental anomalies, and proportio nate short stature. The clinical and radiologic characteristics of Hajdu-Ch eney syndrome develop and progress with age. Many of the medical problems t hat arise in this syndrome cluster in specific age ranges. Case reports of six affected individuals in two additional families and a summary of the En glish literature is presented with emphasis on the changing physical findin gs and medical sequelae over time. (C) 2001 Wiley-Liss, Inc.