Spondyloepiphyseal or spondyloepimetaphyseal dysplasias (Q49817): Difference between revisions
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Displasias espondiloepifisárias (SED) são um grupo heterogêneo de condrodisplasias congênitas que afetam especificamente epífises e vértebras. A sua forma mais frequente é caracterizada pelo pequeno tamanho neonatal de vértebras ovoides e crescimento geral tardio dos ossos, mais acentuado nas cabeças femorais, com um limite metafisário ligeiramente irregular. Outras formas clínicas foram descritas, algumas das quais eram dominantes e mais ou menos graves com lesões metafisárias, enquanto outras eram recessivas e incluíam síndrome nefrótica, linfopenia e transtornos imunológicos (displasia óssea imune). | |||
| description / en | description / en | ||
Spondyloepiphyseal dysplasias (SED) are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. Their most frequent form is characterised by small neonatal size of ovid vertebrae and overall late growth of bones, more marked in the femoral heads, with a slightly irregular metaphyseal limit. Other clinical forms have been described, some of which were dominant and more or less severe with metaphyseal lesions, while others were recessive and included nephrotic syndrome, lymphopenia, and immune disorders (immune bone dysplasia). | |||
Revision as of 20:18, 13 August 2026
Spondyloepiphyseal dysplasias (SED) are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. Their most frequent form is characterised by small neonatal size of ovid vertebrae and overall late growth of bones, more marked in the femoral heads, with a slightly irregular metaphyseal limit. Other clinical forms have been described, some of which were dominant and more or less severe with metaphyseal lesions, while others were recessive and included nephrotic syndrome, lymphopenia, and immune disorders (immune bone dysplasia).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD24.3 |
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| English | Spondyloepiphyseal or spondyloepimetaphyseal dysplasias |
Spondyloepiphyseal dysplasias (SED) are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. Their most frequent form is characterised by small neonatal size of ovid vertebrae and overall late growth of bones, more marked in the femoral heads, with a slightly irregular metaphyseal limit. Other clinical forms have been described, some of which were dominant and more or less severe with metaphyseal lesions, while others were recessive and included nephrotic syndrome, lymphopenia, and immune disorders (immune bone dysplasia). |
