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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Case report: Klippel-Feil syndrome with coexistent hypoparathyroidism.

A 72-year old man presented with clinical signs of cervical myelopathy , a short neck, low posterior hairline, and limited neck movements. He also had a solitary kidney and anomaly of the third rib. Biochemical hypoparathyroidism with low parathyroid hormone level was discovered and secondary causes excluded. Treatment with alfacalcidol, calcium, and spinal decompression by complex laminectomy allowed complete recovery of symptoms. Klippel-Feil syndrome encompasses an increasing constellation of clinical features that affect most organs. The association with hypoparathyroidism, however, has not been described previously. This may be yet another syndrome with single pathology responsible for all the findings.[1]

References

  1. Case report: Klippel-Feil syndrome with coexistent hypoparathyroidism. Bhandari, S., Farr, M.J. Am. J. Med. Sci. (1996) [Pubmed]
 
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