Spondylocostal dysostosis, autosomal recessive (Q89142): Difference between revisions
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A disostose espondilocostal autossômica recessiva é uma doença esquelética rara de gravidade variável associada a defeitos de segmentação vertebral e costal e caracterizada por pescoço curto com mobilidade limitada, escápulas aladas, tronco curto e baixa estatura com múltiplas anomalias vertebrais em todos os níveis da coluna vertebral. | |||
| description / en | description / en | ||
Autosomal recessive spondylocostal dysostosis is a rare skeletal disorder of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine. | |||
Revision as of 15:42, 15 August 2026
Autosomal recessive spondylocostal dysostosis is a rare skeletal disorder of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_505492480 |
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| English | Spondylocostal dysostosis, autosomal recessive |
Autosomal recessive spondylocostal dysostosis is a rare skeletal disorder of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine. |
