Blomstrand lethal chondrodysplasia (Q98923): Difference between revisions
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A condrodisplasia letal de Blomstrand é uma displasia esquelética grave rara caracterizada por letalidade precoce, maturação óssea avançada e diferenciação acelerada de condrócitos. Bebês com BLC geralmente nascem prematuros. Eles se apresentam com uma síndrome dismórfica grave caracterizada por membros extremamente curtos. | |||
| description / en | description / en | ||
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. | |||
Revision as of 15:34, 16 August 2026
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. |
