- A dictionary of medical eponyms

Mulvihill-Smith syndrome (David Weyhe Smith)

Related people

An extremely rare developmental syndrome.

Description

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.

Bibliography

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.

What is an eponym?

An eponym is a word derived from the name of a person, whether real or fictional. A medical eponym is thus any word related to medicine, whose name is derived from a person.

What is Whonamedit?

Whonamedit.com is a biographical dictionary of medical eponyms. It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person.

Disclaimer:

Whonamedit? does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.