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Distal arthrogryposis type IIB: unreported ophthalmic findings.

Authors
  • Sahni, Jayashree
  • Kaye, Stephen B
  • Fryer, Alan
  • Hiscott, Paul
  • Bucknall, Roger C
Type
Published Article
Journal
American journal of medical genetics. Part A
Publication Date
May 15, 2004
Volume
127A
Issue
1
Pages
35–39
Identifiers
PMID: 15103714
Source
Medline
License
Unknown

Abstract

We describe four members spanning three generations of a Caucasian family affected with distal arthrogryposis (DA). Based on Hall's original classification, we have placed our family under type IIB and present previously unreported ophthalmic features. All the members had different degrees of ophthalmoplegia, ptosis, astigmatism, and strabismus. Other findings in affected family members included keratoconus in the index patient, which was associated with abnormal electron microscopy of the affected cornea and increased thickness of the central cornea, small axial length of the globe and choroidal folds in the others.

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