The Dyggve-Melchior-Clausen syndrome:: differential diagnosis of mucopolysaccharidosis type IV or Morquio's syndrome

Dyggve-Melchior-Clausen syndrome (DMCS) is an autosomal recessive skeletal dysplasia. Clinical and radiological similarities with Morquio's syndrome can initially lead wrongly to this diagnosis. Case report.-A nine-year-old boy had mental retardation and progressive postnatal dwarfism. Platyspondyly and dysplastic epiphyses and metaphyses resembled those of Morquio's disease; however clinical and radiological data led to the diagnosis of DMCS. Conclusion.-Clinical and paraclinical features allowing the differentiation of Morquio's syndrome and DMCS are discussed. Initial clinical presentation may be similar, but the intellectual prognosis Is different. (C) 2001 Editions scientifiques et medicales Elsevier SAS.