Spondylometaphyseal dysplasia - cone-rod dystrophy (Q63005): Difference between revisions
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A síndrome de displasia espondilometafisária - distrofia de cone e bastonete é caracterizada pela associação de displasia espondilometafisária (marcada por platispondilia, encurtamento dos ossos tubulares e irregularidade e escavação metafisárias progressivas), com retardo de crescimento pós-natal e comprometimento visual progressivo devido à distrofia de cone e bastonete. | |||
| description / en | description / en | ||
Spondylometaphyseal dysplasia - cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. | |||
Revision as of 10:29, 14 August 2026
Spondylometaphyseal dysplasia - cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_430156722 |
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| English | Spondylometaphyseal dysplasia - cone-rod dystrophy |
Spondylometaphyseal dysplasia - cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. |
