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Dyggve-Melchior-Clausen syndrome

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A familial skeletal disorder characterised by short trunk dwarfism, exaggerated lordosis, protrusion of the sternum, flattened vertebral bodies, small hands and feet, clawed fingers and mental retardation. Short stature noted by 18 months of age. Very rare, over 50 cases reported. Inheritance is autosomal recessive. Increased incidence in Lebanon, Greenland, and Norway

Dyggve-Melchior-Clausen syndrome without mental retardation is referred to as Smith-McCort dwarfism. See under Roy Smith, American physician, born 1914.

Morquio-Brailsford syndrome, or mucopolysaccharidosis IV-A, is an uncommon storage disease characterised by a skeletal dysplasia in which short trunk dwarfism is associated with spinal malalignment, hepatomegaly, aortic incompetence, peculiar facies, corneal clouding, and deafness. See under Luís Morquio, Uruguayan paediatrician, 1867-1935.


  • H. V. Dyggve, J. C. Melchior, J. Clausen:
    Morquio-Ullrich’s disease; An inborn error of metabolism.
    Archives of Disease in Childhood, London, 1962, 37: 525-534.
  • H. V. Dyggve, J. C. Melchior, J. Clausen, S. C. Rastogi:
    The Dyggve-Melchior-Clausen (DMC) syndrome - a 15 year follow-up and a survey of the present clinical and chemical findings.
    Neuropädiatrie, Stuttgart, 1977, 8: 429-442.
  • R. Smith, J. J. McCort:
    Osteochondrodystrophy (Morquio-Brailsford type). Occurrence in three siblings.
    California Medicine, 1958; 88: 55-59.
  • J. Spranger, et al:
    Heterogeneity of Dyggve-Melchior-Clausen dwarfism.
    Human Genetics, Berlin, 1976, 1976, 33: 279-287.

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