| A family with autosomal dominant distal arthrogryposis multiplex congenita and brown syndrome. | |
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MedLine Citation:
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PMID: 10617921 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Arthrogryposis multiplex congenita is a heterogeneous condition found in a number of different disorders and characterized by congenital joint contractures. We describe typical signs of congenital Brown syndrome (inability to elevate the affected eye actively or passively in full adduction) in three relatives with distal arthrogryposis multiplex congenita. We found a thickening of the superior oblique muscles in these patients with pain and increased intraocular pressure in upgaze. The pathogenesis of clinical and morphological findings is discussed. The association of Brown syndrome with distal arthrogryposis multiplex congenita has not been previously reported and provides us with an important point of reference in the understanding of both syndromes. |
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Authors:
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L T Lobefalo; A T Mancini; M T Petitti; A E Verrotti; G E Della Loggia; A E Di Muzio; F E Chiarelli; P E Gallenga |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Ophthalmic genetics Volume: 20 ISSN: 1381-6810 ISO Abbreviation: Ophthalmic Genet. Publication Date: 1999 Dec |
Date Detail:
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Created Date: 2000-02-25 Completed Date: 2000-02-25 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 233-41 Citation Subset: IM |
Affiliation:
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Institute of Ophthalmology, University of Chieti, Chieti, Italy. l.lobefalo@eye.unich.it |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Arthrogryposis / complications*, genetics, pathology Eye / pathology, ultrasonography Family Health Female Genes, Dominant* Humans Male Ocular Motility Disorders / complications*, genetics, pathology Oculomotor Muscles / ultrasonography Pedigree |
| Comments/Corrections | |
Comment In:
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Ophthalmic Genet. 2001 Jun;22(2):125-30
[PMID:
11455953
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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