- A dictionary of medical eponyms

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A syndrome of complex dysostosis of the upper extremity and disturbances of heart rhythm. There is brachytelephalangy of the thumbs with shortening and hypoplasia of the fourth and fifth metacarpals in some cases. Addition disorders include sloping shoulders, hypoplastic deltoid muscles, short arms, flaring of the lower end of the humerus, flaring and obliquity of the lower end of the radius, and absent styloid process of the ulna. Inheritance is autosomal dominant or X-chromosomal dominant.

First observed by Bernard Tabatznik. First publication in 1978 by Samia A. Temtamy, Egyptian-American geneticist (f, born 1935).

Bibliography

Samia Ali Temtamy and Victor Almon McKusick (1921-2008)
The Genetics of Hand Malformations.
  Birth Defects Original Article Series, New York, 1978, 14 (3): 241-244.

Stanley Jablonski:
• Jablonski’s Dictionary of Syndromes & Eponymic diseases.
  Krieger Publishing Company, Malabar, Florida, 1991.

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.

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