Case Report|Articles in Press

Possible gynecologic manifestations of KBG syndrome: A case report

Published:February 05, 2023DOI:



      KBG syndrome is a rare genetic disorder that can present with dysmorphic facial features as well as skeletal, neurological and developmental abnormalities. There is little reported or understood about the gynecologic associations with KBG syndrome.


      Monozygotic twin 14-year-old sisters, both with KBG syndrome, presented independently with abdominal pain, for which they both underwent laparoscopic appendectomies. Intraoperatively, there was no evidence of appendiceal pathology. Both patients were noted to have abnormally appearing elongated ovaries and one was also diagnosed with endometriosis.

      Summary and Conclusion

      The aim of this paper is to highlight a possible gynecologic association with KBG syndrome. For providers caring for this unique subset of patients, it may lower the threshold to suspect fmaendometriosis and increase the suspicion for ovarian dysmorphism.


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