Eaton-McKusick syndrome

from Wikipedia, the free encyclopedia

The Eaton McKusick syndrome is a hereditary malformation syndrome with a combination of limb malformations, it is named after the American geneticists GO Eaton and Victor A. McKusick .

It was first described in 1919 by the Austrian gynecologist Paul Werner, hence the name mesomelic dysplasia or Werner syndrome , but not to be confused with Werner syndrome (adult progeria).

definition

Criteria are:

  • Tibial aplasia or hypoplasia
  • Multiple formations of the big toes ( polydactyly )
  • 6 fingered hands with 3 jointed thumbs (hyperdactyly)
  • Membranous joints ( syndactyly ) of the fingers and / or toes
  • No internal malformations
  • No mental retardation

Optional: thigh dysfunction or hypoplasia.

etiology

The disease is inherited as an autosomal dominant trait

literature

  • B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9 .
  • H. Hesselschwerdt, J. Heisel: Mesomelic dysplasia: case presentation and literature on Werner syndrome (Mesomelic dysplasia: case report and literature about Werner's syndrome). In: Journal for Orthop and their border areas. 128, 1990, pp. 466-472, doi : 10.1055 / s-2008-1039598 .
  • K. Kozlowski, O. Eklöf: Werner mesomelic dysplasia. Report of two variant cases. In: Journal belge de radiologie. Volume 70, Number 4, 1987, pp. 337-339, ISSN  0021-7646 . PMID 3680164 .

Individual evidence

  1. ^ GO Eaton
  2. ↑ McKusick
  3. ↑ P. Werner: About a rare case of dwarfism. In: Archives for Gynecology. 104, Berlin 1919, pp. 278-300.
  4. ^ Whonamedit Paul Werner
  5. ^ Medical lexicon

Web links