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Reynolds-Neri-Herrmann syndrome (James F. Reynolds)

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A dysmorphy syndrome of unknown aetiology marked by facial anomalies, heart defects, macrocephaly, skin changes and developmental retardation.

First description probably by Cantu et al in 1982. In 1986, Reynolds et al described 4 males and 4 females, each from a different family, with a previously undefined multiple congenital anomalies/mental retardation syndrome that they designated the cardiofaciocutaneous syndrome.


  • J. M. Cantu, J. Sanchez-Corona, A. Hernandes, Z. Nazara, D. Garcia-Cruz:
    Individualization of syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies.
    Clinical Genetics, Copenhagen, 1982, 22: 172-179.
  • J. F. Reynolds, Giovanni Neri, J. P. Herrmann, B. Blumberg, J. G. Coldwell, P. V. Miles, J. M. Opitz:
    New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement - the CFC syndrome.
    American Journal of Medical Genetics, New York, 1986, 25: 413-427.
  • G. Neri, G. Sabatino, E. Bertini, M. Genuardi:
    The CFC syndrome – report of the first two cases outside the United States.
    American Journal of Medical Genetics, New York, 1987, 27: 767-771.
  • G. Neri, M Zollino, J. F. Reynolds:
    The Noonan-CFC controversy. (Editorial)
    American Journal of Medical Genetics, 1991, 39: 367-370.

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