Kniest syndrome with dominant inheritance and mucopolysacchariduria

H. J. Kim, N. G. Beratis, P. Brill, E. Raab, K. Hirschhorn, R. Matalon

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

A mother and daughter with clinical and radiographic findings typical of the Kniest syndrome are reported. It is apparent that is dominantly inherited and that sporadic cases may represent fresh mutations. Abnormally high keratan sulfate excretion was found, indicating that the Kniest syndrome is a mucopolysacchariduria.

Original languageEnglish (US)
Pages (from-to)755-764
Number of pages10
JournalAmerican Journal of Human Genetics
Volume27
Issue number6
StatePublished - Dec 1 1975
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Kim, H. J., Beratis, N. G., Brill, P., Raab, E., Hirschhorn, K., & Matalon, R. (1975). Kniest syndrome with dominant inheritance and mucopolysacchariduria. American Journal of Human Genetics, 27(6), 755-764.