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Review

Congenital Fibrosis of the Extraocular Muscles Overview

Mary C Whitman  1 , Julie A Jurgens  2 , David G Hunter  3 , Elizabeth C Engle  4   5
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Congenital Fibrosis of the Extraocular Muscles Overview

Mary C Whitman et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of congenital fibrosis of the extraocular muscles (CFEOM);

  2. 2

    Review the genetic causes of CFEOM;

  3. 3

    Review the disorders to consider the differential diagnosis of CFEOM;

  4. 4

    Provide an evaluation strategy to identify the genetic cause of CFEOM in a proband (when possible);

  5. 5

    Review management of CFEOM;

  6. 6

    Inform genetic counseling of family members of an individual with CFEOM.

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