Autosomal dominant spondylocostal dysostosis

A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.

Upslanted palpebral fissure

The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.


合計: 0

                      


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PMID (PMCID)