|Text in Italics is general (instructional) information|
X ray R femur
X ray L Femur
Diseases with widespread increase in bone density
In the Northern Cape flouride is a common contaminant of ground water and in South Africa flourosis is not an uncommon cause of increased bone density. Because of the positive family history of drawfism in this case Pycnosysostosis is the diagnosis. The spinal x rays show increased density but no "bone within a bone" appearance as with osteopetrosis.
Pycnosysostosis is a rare hereditary bone abnormality characterised by increased bone density, short stature, hypoplasia of the mandible and dysplasia of the skull bones. Bowed femurs and coxa vara are common. The bone is brittle resulting in pathological fractures.
The development of a syrinx, as in this patient, is a complication seen in sclerosing bone diseases1, due to bony overgrowth.
1. Ralph SL. Neurologic abnormalities in the skeletal dysplasias: A clinical and radiological perspective. American Journal of Medical Genetics 1997;69:33-43.