Possible Gynecologic Manifestations of Keishi-Bukuryo-Gan Syndrome: A Case Report

BACKGROUND: Keishi-Bukuryo-Gan (KBG) syndrome is a rare genetic disorder that can present with dysmorphic facial features as well as skeletal, neurological, and developmental abnormalities. Little is reported or understood about the gynecologic associations with KBG syndrome. CASE: 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 1 was also diagnosed with endometriosis. SUMMARY AND CONCLUSION: The aim of this paper was to highlight a possible gynecologic association with KBG syndrome. For providers caring for this unique subset of patients, it could lower the threshold to suspect endometriosis and increase the suspicion for ovarian dysmorphism.