Síndrome de Warkany

A síndrome de Warkany ou trissomia 8 é uma anomalia cromossômica, descoberta pelo pediatra austríaco-estadunidense Joseph Warkany.

A trissomia simples do 8 é, geralmente, fatal, levando o feto ao aborto espontâneo. Os indivíduos sobreviventes apresentam a trissomia na forma de mosaicismo.[1][2]

Características

A síndrome de Warkany se caracteriza pelo comprometimento do desenvolvimento das estruturas mentais, conformação facial relativamente comum entre os portadores, rótulas ausentes ou displásicas, contrações espasmódicas, sulcos nas plantas dos pés e nas palmas das mãos o que provoca a postura distintiva anormal do dedo do pé, anomalia vertebral, pélvis estreito, anomalias ureteral-renal, ou outras a anomalias.[1]

Referências

  1. ↑ a b Jones, K. L. Smith's Recognizable Patterns of Human Malformation (6ª edição). Editora W. B. Sanders, 2005
  2. ↑ «Healthline article». Consultado em 22 de julho de 2009. Arquivado do original em 20 de outubro de 2008 

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