Hyper Parathyroidisim Jaw Tumor Syndrome: A Rare Condition of Incongruous Features

نویسندگان

  • Manchil P Redwin Dhas
  • Kannan S Karthiga
  • Joy E Tatu
  • Sherubin J Eugenia
چکیده

Background Hyperparathyroidism-Jaw Tumor (HPT-JT) syndrome is a rare genetic disorder bearing both a germline and a somatic CDC73 mutation (formerly known as HRPT2), which has been mapped to chromosome 1q25-q31. The association of jaw ossifying fibroma with primary hyperparathyroidisim (PHPT) is typical of HPT-JT. It may also include cystic and neoplastic renal abnormalities and uterine tumors. Case Details Here, we report a case of HPT-JT with an initial presentation of declination in reproductive fitness. Extensive literature search and thorough investigation helped us parturitate the underlying syndrome, thereby predictively improving the prognosis. Conclusion The features of HPT-JT are clinically difficult to ascertain because the parathyroid disease, ossifying fibroma in the jaw and other abnormalities, often occurs asynchronously and may be diagnosed and treated separately.

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عنوان ژورنال:

دوره 27  شماره 

صفحات  -

تاریخ انتشار 2017