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An extremely rare syndrome characterized by low birth weight, short stature, prematurely aged facial appearance, microcephaly, multiple pigmented nevi, immunodeficiency, hearing loss, and high-pitched voice. 

The Mulvihill-Smith Syndrome was first recognized in 1975 by David Smith Weyhe (1926-?1981), professor of Pediatrics at the University of Washington, and his student and future professor of Genetics at the University of Oklahoma, John Mulvihill. They reported a mildly mentally retarded 17 year old male with very short stature, microcephaly, numerous pigmented naevi and freckles, hypodontia, chronic infections, and Insulin dependent diabetes mellitus, and diagnosed the same condition in a previously reported 4 year old mentally immature boy.


J. J. Mulvihiill, D. W. Smith:
• Another disorder with prenatal shortness of stature and premature aging.
  Birth Defects. Original Article Series, White Plains, 1975, 11: 368-370.

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