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 c an initially lead wrongly to this diagnosis. Case report.-A nine-year-old boy had mental retardation and progressive pos tnatal dwarfism. Platyspondyly and dysplastic epiphyses and metaphyses rese mbled those of Morquio's disease; however clinical and radiological data le d to the diagnosis of DMCS. Conclusion.-Clinical and paraclinical features allowing the differentiation of Morquio's syndrome and DMCS are discussed. Initial clinical presentatio n may be similar, but the intellectual prognosis Is different. (C) 2001 Edi tions scientifiques et medicales Elsevier SAS.