A hereditary condition characterized by stunted stature, wormian bones, slowly progressive skeletal dysplasia which affects the skull, spine, and long bones, loss of the terminal phalanges of the hands and feet sometimes giving the appearance of clubbing with osteoporosis. Resorption of the alveolar process and early loss of teeth are the principal dental features. Joint laxity is a frequent feature.
Bone fractures from minor traumas. Both sexes affected. Aetiology unknown. Inheritance is autosomal dominant. Sporadic cases are believed to represent a fresh gene mutation.
An early description of single cases was made in 1948 by Hajdu and Ralph Kauntze [London]. In 1965 Cheney recognized the genetical character of the disturbance.
- N. Hajdu, R. Kauntze:
British Journal of Radiology, London, 1948, 21: 42-48.
- W. D. Cheney:
Acro-osteolysis. American Journal of Roentgenology, 1965, 94: 595-607.
- I. Marik, M.Kuklik, D. Zemkowa, and K. Kozlowski:
Hajdu-Cheney syndrome: Report of a family and a short literature review.
Australasian Radiology, December 2006, 50 (6): 534-538.