| Hereditary external ophthalmoplegia synergistic divergence, jaw winking, and oculocutaneous hypopigmentation: a congenital fibrosis syndrome caused by deficient innervation to extraocular muscles. | |
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MedLine Citation:
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PMID: 9544647 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: The congenital fibrosis syndrome is a hereditary form of external ophthalmoplegia that is considered to be a primary myopathy. PURPOSE: To document the coexistence of two distinct forms of ocular motor synkinesis in a subgroup of patients with congenital fibrosis syndrome. METHODS: Clinical and intraoperative examination results and extraocular muscle biopsy specimens from four patients with congenital fibrosis syndrome were studied. RESULTS: Three patients displayed a variant of synergistic divergence characterized by simultaneous abduction with intorsion and depression of the synkinetically abducting eye. Three patients had variant of Marcus Gunn jaw winking characterized by elevation of a ptotic eyelid during mouth opening. Three patients had oculocutaneous hypopigmentation. CONCLUSIONS: A subgroup of patients with congenital fibrosis syndrome display two distinct synkinetic ocular movements in conjunction with oculocutaneous hypopigmentation. The patterns of neuronal misdirection implicate a regional innervational disturbance involving cranial nerves III through VI as the underlying cause of diffuse hereditary ophthalmoplegia in these patients. |
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Authors:
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M C Brodsky |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Ophthalmology Volume: 105 ISSN: 0161-6420 ISO Abbreviation: Ophthalmology Publication Date: 1998 Apr |
Date Detail:
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Created Date: 1998-04-14 Completed Date: 1998-04-14 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7802443 Medline TA: Ophthalmology Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 717-25 Citation Subset: IM |
Affiliation:
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University of Arkansas for Medical Sciences, Little Rock, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Albinism, Oculocutaneous / etiology*, physiopathology Child, Preschool Cranial Nerves / abnormalities*, physiopathology, surgery Eye Diseases, Hereditary / etiology*, physiopathology Female Fibrosis / congenital Humans Jaw Diseases / etiology*, physiopathology Male Ocular Motility Disorders / etiology*, physiopathology Oculomotor Muscles / innervation*, physiopathology, surgery Ophthalmoplegia / etiology, genetics*, physiopathology Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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