Brachyolmia (Q86533): Difference between revisions
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Braquiolmia é uma displasia espondilodisplásica caracterizada por estatura baixa de tronco curto início na infância e platiespondilia generalizada, sem alterações epifisárias ou metafisárias significativas nos ossos longos. Existem quatro tipos principais: O tipo Hobaek, com baixa estatura limitada principalmente ao tronco. O tipo Toledo, provavelmente idêntico ao tipo Hobaek mas com uma excreção anormal de glicosaminoglicanos e opacidades corneanas pontilhadas periféricas. O tipo Maroteaux com espaços intervertebrais semelhantes mas irregulares e reduzidos, e extensão acentuada das margens laterais das vértebras. O tipo autossômico dominante com sintomas algo mais brandos do que nos outros tipos. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Brachyolmia is a spondylodysplastic dysplasia characterised by childhood onset short trunk-short stature and generalised platyspondyly without significant epiphyseal or metaphyseal changes in the long bones. There are four main types: The Hobaek type, with short stature mainly limited to the trunk. The Toledo type, probably identical to the Hobaek type but with an abnormal excretion of glycosaminoglycans and peripheral punctate corneal opacities. The Maroteaux type with similar but with irregular and reduced intervertebral spaces and marked extension of the lateral margins of the vertebrae. The autosomal dominant type with symptoms somewhat milder than in the other types. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1255949169 / rank | |||||||||||||||
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CID11:ID_1255949169 | |||||||||||||||
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dki-india-ID_1255949169 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest revision as of 11:57, 15 August 2026
Brachyolmia is a spondylodysplastic dysplasia characterised by childhood onset short trunk-short stature and generalised platyspondyly without significant epiphyseal or metaphyseal changes in the long bones. There are four main types: The Hobaek type, with short stature mainly limited to the trunk. The Toledo type, probably identical to the Hobaek type but with an abnormal excretion of glycosaminoglycans and peripheral punctate corneal opacities. The Maroteaux type with similar but with irregular and reduced intervertebral spaces and marked extension of the lateral margins of the vertebrae. The autosomal dominant type with symptoms somewhat milder than in the other types.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1255949169 |
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| English | Brachyolmia |
Brachyolmia is a spondylodysplastic dysplasia characterised by childhood onset short trunk-short stature and generalised platyspondyly without significant epiphyseal or metaphyseal changes in the long bones. There are four main types: The Hobaek type, with short stature mainly limited to the trunk. The Toledo type, probably identical to the Hobaek type but with an abnormal excretion of glycosaminoglycans and peripheral punctate corneal opacities. The Maroteaux type with similar but with irregular and reduced intervertebral spaces and marked extension of the lateral margins of the vertebrae. The autosomal dominant type with symptoms somewhat milder than in the other types. |
Statements
CID11:ID_1255949169
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dki-india-ID_1255949169
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Concluído
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13 August 2026
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