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A dominant syndrome of metacarpal and metatarsal asymmetry with tarsal and carpal fusions, syndactyly, articular dysplasia and platyspondyly.

作者信息

Christian J C, Franken E A, Lindeman J P, Lindseth R E, Reed T, Scott C I

出版信息

Clin Genet. 1975 Jul;8(1):75-80. doi: 10.1111/j.1399-0004.1975.tb01957.x.

DOI:10.1111/j.1399-0004.1975.tb01957.x
PMID:168022
Abstract

A mother and daughter with metacarpal and metatarsal asymmetry, tarsal and carpal fusions, long bone articular dysplasia and platyspondyly are reported as a possible autosomal dominant syndrome affecting skeletal development. The asymmetry of the second metacarpals is perhaps the most striking finding and resulted in a range of bone lengths in the two individuals from minus 6.3 to plus 3.7 standard deviations from the mean.

摘要

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