Lethal Kniest-like dysplasia

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Lethal Kniest-like dysplasia

A rare lethal congenital chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a ‘Swiss cheese’ appearance of the cartilage matrix as well as distinctive changes in the growth plate and resting cartilage resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Lethal Kniest-like dysplasia?

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