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Smith-McCort dwarfism (Roy Smith)
Also known as:
Smith-McCort syndrome
Associated persons:
Holger Victor Dyggve
James J. McCort
Luís Morquio
Roy Smith
Description:
Dwarfing skeletal dysplasia with features of the Dyggve-Melchior-Clausen syndrome, however, with normal intelligence. Inheritance is autosomal recessive. The syndrome was first described in 1958 by Smith and McCort, who misinterpreted their findings as Morquio’s disease. The disease picture was delimitated and distinguished form Dyggve-Melchior-Clausen syndrome by the German paediatrician Jürgen Spranger (1931–) et al in 1976.
See also Dyggve-Melcior-Clausen syndrome, under Holger Victor Dyggve, Danish paediatrician and psychiatrist, 1913-1984.
Morquio-Brailsford syndrome, or mucopolysaccharidosis IV-A, is an uncommon storage disease characterised by a skeletal dysplasia in which dwarfism. See under Luís Morquio, Uruguayan paediatrician, 1867-1935.
Bibliography:
- R. Smith, J. McCort:
Osteochondrodystrophy (Morquio-Brailsford type). California Medicine, 1958, 88: 55.
- J. Spranger, B. Bierbaum, J. Herrmann:
Heterogeneity of Dyggve-Melchior-Clausen dwarfism.
Human Genetics, Berlin, 1976, 33: 279-287.
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