A. Coeslier et al., The Dyggve-Melchior-Clausen syndrome: differential diagnosis of mucopolysaccharidosis type IV or Morquio's syndrome, ARCH PED, 8(8), 2001, pp. 838-842
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.