Abstract
Background
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.
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 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.
Keywords
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References
- KBG syndrome.Orphanet Journal of Rare Diseases. 2017; 12: 183
- Clinical and genetic aspects of KBG Syndrome.Am J Med Genet A. 2020; 182: 1073-1083
- Clinical and genetic characteristics of Keishi-Bukuryo-Gan syndrome: an analysis of 5 cases.Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021; 50 (25): 494-499
Article info
Publication history
Accepted:
January 30,
2023
Received in revised form:
January 25,
2023
Received:
January 11,
2022
Publication stage
In Press Journal Pre-ProofIdentification
Copyright
© 2023 Published by Elsevier Inc. on behalf of North American Society for Pediatric and Adolescent Gynecology.
