Literature DB >> 6545392

Congenital familial external ophthalmoplegia with co-contraction.

G W Cibis.   

Abstract

A family fitting the criterion for congenital familial fibrosis has electromyographic and clinical evidence of co-contraction. Forced ductions were negative in one patient. Muscle fibrosis in this family is thought to be secondary to the innervational anomaly akin to Duane's syndrome rather than a primary myogenic etiology. The evidence of a brainstem etiology makes classification as an ophthalmoplegia seem more appropriate.

Entities:  

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Year:  1984        PMID: 6545392     DOI: 10.3109/13816818409006116

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN: 0167-6784


  5 in total

Review 1.  Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs).

Authors:  A A Assaf
Journal:  Eye (Lond)       Date:  2011-07-01       Impact factor: 3.775

Review 2.  Congenital cranial dysinnervation disorders.

Authors:  Anupam Singh; P K Pandey; Ajai Agrawal; Sanjeev Kumar Mittal; Kartik Maheshbhai Rana; Chirag Bahuguna
Journal:  Int Ophthalmol       Date:  2016-11-11       Impact factor: 2.031

3.  Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.

Authors:  E C Engle; I Marondel; W A Houtman; B de Vries; A Loewenstein; M Lazar; D C Ward; R Kucherlapati; A H Beggs
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

4.  CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.

Authors:  Elizabeth C Engle; Nathalie McIntosh; Koki Yamada; Bjorn A Lee; Roger Johnson; Michael O'Keefe; Robert Letson; Arnold London; Evan Ballard; Mark Ruttum; Naomichi Matsumoto; Nakamichi Saito; Mary Louise Z Collins; Lisa Morris; Monte Del Monte; Adriano Magli; Teresa de Berardinis
Journal:  BMC Genet       Date:  2002-03-06       Impact factor: 2.797

Review 5.  Duane retraction syndrome: causes, effects and management strategies.

Authors:  Ramesh Kekunnaya; Mithila Negalur
Journal:  Clin Ophthalmol       Date:  2017-10-30
  5 in total

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