Blue sclerae and keratoconus: Key features of a distinct heritable disorder of connective tissue
作者:
G. Greenfield,
A. Romano,
R. Stein,
R. M. Goodman,
期刊:
Clinical Genetics
(WILEY Available online 1973)
卷期:
Volume 4,
issue 1
页码: 8-16
ISSN:0009-9163
年代: 1973
DOI:10.1111/j.1399-0004.1973.tb01115.x
出版商: Blackwell Publishing Ltd
数据来源: WILEY
摘要:
A syndrome of keratoconus, blue sclerae, middle ear bony conduction defect and spondylolisthesis occurring in a brother and sister born to consanguineous parents is described. Eleven similar cases reported in the literature are reviewed. The narrow range of phenotypic expression and the clcar pattern of heredity suggest that this is a distinct autosomal recessive disorder of connectivc tissue. It is postulated that the basic defect in this syndrome involves an alteration in the biosyntheis of collagen.
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