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Lethal Kniest-like dysplasia
Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.
This syndrome radiologically and histologically resembles Kniest dysplasia but differs in clinical course and inheritance.
Transmission is likely to be autosomal recessive.
Both patients died in the neonatal period.