Skeletal Syndromes Resulting from Metabolic Anomalies

The skeleton can be constantly, or occasionally, involved in many clinical syndromes caused by metabolic diseases. These can be distinguished in diseases of the phospho-calcium metabolism and in diseases of the protein, lipid, and glycidic metabolism. All these syndromes are rare, but together, they have an overall incidence of 0.8% of live births. This group includes oculo-cerebro-renal dwarfism or Lowe syndrome, hypophosphatasia, and hyperphosphatasia. In all these diseases, the fundamental sign is arthrogryposis, and it is therefore useful to describe in summary what an arthrogryposis is before reviewing the most common syndromes that present this sign.