Distal arthrogryposis type IIB: Unreported ophthalmic findings
| Autor: | R C Bucknall, Jayashree Sahni, Stephen B. Kaye, Alan Fryer, Paul Hiscott |
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| Rok vydání: | 2003 |
| Předmět: |
Adult
Male Keratoconus Fundus Oculi Blepharophimosis Astigmatism Cornea Ptosis Genetics Humans Medicine Eye Abnormalities Strabismus Genetics (clinical) Arthrogryposis Hand deformity business.industry Retinal Vessels Anatomy Middle Aged medicine.disease Distal arthrogryposis eye diseases Pedigree medicine.anatomical_structure Female sense organs medicine.symptom business Hand Deformities Congenital |
| Zdroj: | American Journal of Medical Genetics Part A. :35-39 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.20634 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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