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[Smith-McCort syndrome (author's transl)].

作者信息

Koppers B

出版信息

Rofo. 1979 Feb;130(2):213-22. doi: 10.1055/s-0029-1231256.

Abstract

An 13-year-old mentally normal boy with short-trunked dwarfism is discribed as a case of the Smith-McCort syndrome (SMC-syndrome). His disease has been observed radiologically, clinically an histologically for many years. According to Spranger (23) this disorder differs from the Dyggve-Melchior-Clausen disease (DMC-syndrome) by lacking oligophrenia. Beside a characteristic flattening of the vertebral bodies both syndromes show a lacelike appearance of the iliac crest (crest sign) as a significant radiological sign. Both syndromes appear to be inherited as an autosomal recessive trait.

摘要

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