Smith-Fineman-Myers syndrome (Richard D. Smith)

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A rare familial dysmorphy syndrome characterised by short stature, psychomotor retardation, and unusual face.

Description

A rare familial dysmorphy syndrome characterised by microcephaly and dolicocephaly with narrow face,, unusual facies, short stature, chest deformity, mental deficiency, and other dysmorphic features. Eye features include strabismus, short palpebral fissures, hyperopia, and hypoplasia of the optic nerve. Inheritance is X-linked.

First described by Smith, Fineman, and Myers on the basis of 2 affected brothers.

Bibliography

  • R. D. Smith, R. M. Fineman, G. G. Myers:
    Short stature, psychomotor retardation, and unusual facial appearance in two brothers.
    American Journal of Medical Genetics, New York, 1980, 7: 5-9.
  • L. D. Stephenson, J. P. Johnson:
    Smith-Fineman-Myers syndrome: report of a third case.
    American Journal of Medical Genetics, New York, 1985, 22: 301-304
  • L. C. Ades, B. Kerr, G. Wise:
    Smith-Fineman-Myers syndrome in two brothers.
    American Journal of Medical Genetics, New York, 1991, 40: 467-470.
  • T. Reed:
    Unusual fingerprint patterns in Smith-Fineman-Myers syndrome.
    American Journal of Medical Genetics, New York, 1993, 46: 727.
  • J. J. Wei, B. X. Chen, Y. Jiang, Y. P. Yang, Y. Guo:
    Smith-Fineman-Myers Syndrome - Report on a Large Family.
    American Journal of Medical Genetics, New York, 1993 SEP 1;47(3): 307-311.

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