ABSTRACT
Sanfilippo’s disease is a mucopolysaccharide disorder that is a deficiency of an essential enzyme that breaks down heparin sulfate. For many of the congenital and developmental diseases of the whole skeleton, there is a classification for different forms of dysplasia, which divides it geographically rather than by age or appearance. The children have a flat face with a depressed nasal bridge and asymmetrical shortening of their extremities. Radiographically, the child presents with stippled epiphyses, most typically seen in the hands and feet, but they may occur throughout the body. In the classical infantile form, the child presents with severe anemia and dense brittle bones with many fractures. In the long bones, there is failure of tubulation or modeling, with flared, widened metaphyses, absolutely white bones with pseudo-fractures, stress fractures, incremental fractures, and true fractures all of which may be present.
