Parastremmatic dwarfism (Q102696): Difference between revisions
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| description / pt-br | description / pt-br | ||
Nanismo parastremático é uma condrodisplasia muito rara, caracterizada por nanismo grave, cifoescoliose, rigidez de grandes articulações e distorção de membros inferiores. As radiografias mostram arqueamento de ossos longos, platiespondilia e textura óssea metafisária e epifisária muito rugosa e irregular. A síndrome é causada por uma mutação heterozigótica no gene TRPV4 (12q24.1). | |||
| description / en | description / en | ||
Parastremmatic dwarfism is a very rare chondrodysplasia characterised by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture. The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1). | |||
Revision as of 19:53, 16 August 2026
Parastremmatic dwarfism is a very rare chondrodysplasia characterised by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture. The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_431936114 |
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| English | Parastremmatic dwarfism |
Parastremmatic dwarfism is a very rare chondrodysplasia characterised by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture. The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1). |
