Blomstrand lethal chondrodysplasia (Q98923)
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Blomstrand lethal chondrodysplasia is a rare severe skeletal dysplasia characterised by early lethality, advanced bone maturation and accelerated chondrocyte differentiation. Infants with BLC are typically born prematurely. They present with a severe dysmorphic syndrome characterised by extremely short limbs.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1147450651 |
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| English | Blomstrand lethal chondrodysplasia |
Blomstrand lethal chondrodysplasia is a rare severe skeletal dysplasia characterised by early lethality, advanced bone maturation and accelerated chondrocyte differentiation. Infants with BLC are typically born prematurely. They present with a severe dysmorphic syndrome characterised by extremely short limbs. |
