- A dictionary of medical eponyms

Tabatznik's syndrome

Synonyms

Heart-hand syndrome II.

Related people

Heart-hand syndrome II. A syndrome of complex dysostosis of the upper extremity and disturbances of heart rhythm.

Description

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.

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