Mucopolysaccharidosis type VII (β‐glucuronidase deficiency): a report of a new case and a survey of those in the literature

A new case of mucopolysaccharidosis type VII ( β ‐glucuronidase deficiency) is described which presented with relatively mild clinical symptoms including disproportionate dwarfism, sternal protrusion, slight hepatomegaly and a small hernia. Facial features were not coarse and no neurological abnormalities were present. Urinary analysis revealed an increased excretion of chondroitin 4– and 6– sulphates. β‐ glucuronidase activity was virtually absent in serum and cultured fibroblasts. The results, together with a clinical follow‐up of a previous case, are compared with the few cases described in the literature.