[Dyggve-Melchior-Clausen syndrome: differential diagnosis of mucopolysaccharidosis type IV or Morquio disease].
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.


METHODS
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.


CONCLUSIONS
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.
Coëslier
A
A
Service de génétique clinique, hôpital Jeanne-de-Flandre, centre hospitalier régional et universitaire de Lille, 2, avenue Oscar-Lambret, 59037 Lille, France.
Boute-Bénéjean
O
O
Moerman
A
A
Fron
D
D
Manouvrier-Hanu
S
S
D001848:Bone Diseases, Developmental / Q000151:congenital / Q000175:diagnosis*; D002648:Child; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000209:etiology*; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology*; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis*; D013577:Syndrome
Le syndrome de Dyggve-Melchior-Clausen: diagnostic différentiel de la mucopolysaccharidose de type IV ou maladie de Morquio.