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Watson's syndrome

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A rare syndrome originally described as comprising pulmonary valvular stenosis, café-au-lait spots, dull intelligence, and short stature.

Description

A rare syndrome originally described as comprising pulmonary valvular stenosis, café-au-lait spots, dull intelligence, and short stature. Later the phenotype has been expanded to include macrocephaly and Lisch' nodules in the majority of cases, and neurofibromatosis in one-third of the affected persons. Later studies indicate that the characteristics of this condition overlap those of neurofibromatosis and the Noonan syndrome (the neurofibromatosis-Noonan syndrome). Inheritance is autosomal dominant.

Bibliography

  • G. H. Watson:
    Pulmonary stenosis, café-au-lait spots, and dull intelligence.
    Archives of Disease in Childhood, London, 1967, 42: 303-307.
  • J.E. Allanson, G.H. Watson:
    Watson syndrome: Nineteen years on.
    Proceedings of the Greenwood Genetic Center, South Carolina, 1987, 6: 173.

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