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 language||English (US)|
|Number of pages||10|
|Journal||American Journal of Human Genetics|
|State||Published - Dec 1 1975|
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