Osteochondrodystrophia Deformans with Mucopolysaccharidosis.

In 1929, Morquio described a peculiar skeletal disease, which he called familial osseous dystrophy. The disease develops gradually after the first year of life and is characterized by dwarfism with short neck, deformed chest with protruding sternum, deformed legs with pronounced genu valgum, and broad flat feet. The skull and face are normal and the intelligence is normal. The disease is often accompanied by muscular weakness. Radiologically, in Morquio's patients the epiphyses of the long bones were deformed with irregular calcifications, and the development of the ossification centres of the carpal and tarsal bones was defective. Only slight changes were found in the spine. The same year Brailsford (1929) described a similar entity, which he called chondro-osteodystrophy, but in his patient radiography showed distinct changes also in the spine, the vertebral bodies being of irregular shape and size with blurred edges and a tongued anterior surface. The disease is now called osteochondrodystrophia deformans, Morquio's disease, or Morquio-Brailsford's disease. In 1926 Silfverskiold described a disorder with similar radiological changes in the epiphyses and in the spinal column, but the clinical picture was much less peculiar, the patients exhibiting only moderate retardation of growth, moderate thoracic kyphosis, and pronounced varus position of the feet. The characteristic skeletal changes may vary from very slight lesions which can only be detected radiologically, to gross changes with dwarfism and deformed spinal column (Brailsford, 1948). The most pronounced forms of Morquio-Brailsford's disease offer many points of resemblance to gargoylism (Robinow, 1958), and the question whether Morquio-Brailsford's disease and gargoylism are variants of the same disorder or whether they are two different entities remains to be solved. Some authors state that the radiological skeletal changes in Morquio-Brailsford's disease and gargoylism are indistinguishable (Eichenberger, 1954), and clinically there exist transitional forms, i.e. Morquio-Ullrich's disease, between the two entities (Wiedemann, 1954); hence it has been suggested that the various entities be united under the name of gargoylism (Eichenberger, 1954). However, this term seems inapposite, since gargoylism refers to the grotesque appearance seen only in the most severe case. Others maintain that gargoylism and Morquio-Brailsford's disease are two different disorders and that MorquioUllrich's disease comes under neither (Zellweger, Ponseti, Pedrini, Stamler, and von Noorden, 1961). In gargoylism, accumulation of acid mucopolysaccharides with a high content of hexosamines in brain, liver, bones, and other organs, and increased urinary excretion of acid mucopolysaccharides has been demonstrated. In Morquio-Ullrich's disease deposits of acid mucopolysaccharides in bone tissue and increased urinary excretion of acid mucopolysaccharides were also found, but the excreted mucopolysaccharides were different from those excreted in gargoylism (Zellweger et al., 1961; Dyggve, Melchior, and Clausen, 1962). Such biochemical differences as have hitherto been demonstrated between gargoylism, Morquio-Brailsford's disease, and Morquio-Ullrich's disease are hardly sufficient to decide that they are three different entities. This paper reports a study of a family consisting of five members, all of whom had increased urinary excretion of mucopolysaccharides, two out of three children furthermore having a slight degree of osteochondrodystrophia deformans.