Pentasomy X with multiple dislocations

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Abstract

The authors describe a pentasomy X (49,XXXXX) patient whose multiple dislocations led to a consideration of the Larsen syndrome. Review of the 11 reported cases of pentasomy X showed that elbow dislocations are known to occur in this syndrome. This patient is the first to present hypoplasia of the glenoid process with consequent shoulder dislocation. Clinical and radiologic findings of previously reported cases of pentasomy X are reviewed.

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Dryer, R. F., Patil, S. R., Zellweger, H. U., Simpson, J. M., Hanson, J. W., Aschenbrenner, C., & Weinstein, S. L. (1979). Pentasomy X with multiple dislocations. American Journal of Medical Genetics, 4(4), 313–321. https://doi.org/10.1002/ajmg.1320040402

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