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Lethal Kniest-like dysplasia
rareLethal 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.
- Identifiers
- MONDO:0009498 OMIM:245190Orphanet:2347
- Part of
- Osteochondrodysplasia
- Also known as
- arthrosis, flat face, hypotonia, short neck and macrocephaly · Kniest like dysplasia lethal
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