Spondyloepimetaphyseal dysplasia, matrilin-3 type (Q88336): Difference between revisions
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Displasia espondiloepimetafisária (SEMD), tipo matrilina-3 é uma forma de SEMD caracterizada por nanismo desproporcional de início precoce, arqueamento dos membros inferiores, ossos longos curtos, largos e atarracados com graves alterações epifisárias e metafisárias, lordose lombar, ossos ilíacos hipoplásicos, corpos vertebrais ovoides planos e mãos normais. | |||
| description / en | description / en | ||
Spondyloepimetaphyseal dysplasia (SEMD), matrilin-3 type is a form of SEMD characterised by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. | |||
Revision as of 14:32, 15 August 2026
Spondyloepimetaphyseal dysplasia (SEMD), matrilin-3 type is a form of SEMD characterised by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1983063881 |
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| English | Spondyloepimetaphyseal dysplasia, matrilin-3 type |
Spondyloepimetaphyseal dysplasia (SEMD), matrilin-3 type is a form of SEMD characterised by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. |
