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  • Title: [Dyggve-Melchior-Clausen syndrome: differential diagnosis of mucopolysaccharidosis type IV or Morquio disease].
    Author: Coëslier A, Boute-Bénéjean O, Moerman A, Fron D, Manouvrier-Hanu S.
    Journal: Arch Pediatr; 2001 Aug; 8(8):838-42. PubMed ID: 11524915.
    Abstract:
    UNLABELLED: 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.
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