| Main clinical features
|
happy faces , dysostosis-multiplex-like changes, predominantly in the hands and feet, short stature, small hands and feet with broad proximal phalanges, cone-shaped epiphyses, delayed bone age and shortened tubular bones, and an apparently focal accumulation of acid mucopolysaccharides in the liver and possibly the cardiovascular system
small hands and feet were evident at birth, joint contractures affected particularly the fingers, hepatomegaly and cardiomegaly; urinary excretion of mucopolysaccharides was normal
biopsy material has shown abundant lysosome-like vacuoles in hepatocytes, fibroblasts and macrophages suggestive of a storage disorder |