期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 127A, 期 1, 页码 35-39出版社
WILEY
DOI: 10.1002/ajmg.a.20634
关键词
distal arthrogryposis; type IIB; autosomal dominant; keratoconus; choroidal folds; abnormal collagen deposition; electron microscopy
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. (C) 2003 Wiley-Liss, Inc.
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