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

Jessica A Lawton; Kristl V Tomlin

doi:10.1016/j.jpag.2023.01.215

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

J Pediatr Adolesc Gynecol. 2023 Aug;36(4):428-429. doi: 10.1016/j.jpag.2023.01.215. Epub 2023 Feb 6.

Authors

Jessica A Lawton¹, Kristl V Tomlin²

Affiliations

¹ The University of South Carolina School of Medicine Columbia, Columbia, South Carolina. Electronic address: jessicaalawtonn@gmail.com.
² The University of South Carolina School of Medicine Columbia, Columbia, South Carolina.

PMID: 36754204
DOI: 10.1016/j.jpag.2023.01.215

Abstract

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.

Keywords: Endometriosis; KBG syndrome; Ovarian dysmorphism.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple* / diagnosis
Adolescent
Bone Diseases, Developmental*
Endometriosis* / complications
Endometriosis* / diagnosis
Endometriosis* / surgery
Facies
Female
Humans
Intellectual Disability*
Tooth Abnormalities*

Supplementary concepts

KBG syndrome