FURTHER EVIDENCE THAT THE HAJDU-CHENEY-SYNDROME AND THE SERPENTINE FIBULA POLYCYSTIC KIDNEY SYNDROME ARE A SINGLE ENTITY

The Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disorder. It comprises a coarse face, short neck, hirsutism, joint laxity, and normal intelligence. Bone dysplasias, include acro-osteolysis, bathroc ephaly, and vertebral anomalies. In 1988, Exner [1988: fur J Pediatr 1 47:544-546] coined the term ''serpentine fibula-polycystic kidney synd rome'' (SFPKS) when he reported on a girl with short stature, unusual facial appearance, polycystic kidneys, and elongated curved fibulae. H e postulated that it was a new entity different from the Melnick-Needl es syndrome. Since his report, five similar cases have been published. Similarities between both HCS and SFPKS were noticed first by us and then by other authors. In this report we show that many clinical and r adiological characteristics are shared by the HCS and the SFPKS and hy pothesize that they represent a single entity with a variable degree o f expression. (C) 1998 Wiley-Liss, Inc.