Otospondylomegaepiphyseal dysplasia (Q88328): Difference between revisions
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A displasia otosspondilomegaepifisária (OSMED) é um erro inato da formação do colágeno da cartilagem caracterizado por perda auditiva neurossensorial, epífises aumentadas, displasia esquelética com membros desproporcionalmente curtos, anomalias do corpo vertebral e uma fácies característica. | |||
| description / en | description / en | ||
Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterised by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. | |||
Revision as of 14:31, 15 August 2026
Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterised by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1885284987 |
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| English | Otospondylomegaepiphyseal dysplasia |
Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterised by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. |
