Authors
Berete Pornan Issa Jules, Ferri Joel
Published in
The Journal of craniofacial surgery. Jul 27, 2026. Epub Jul 27, 2026.
Abstract
KBG syndrome is a rare genetic disease caused by loss-of function of the ANKRD11 gene.
The aim of this study was to summarize, through a systematic literature review, the maxillofacial manifestations of KBGS.
This systematic review follows PRISMA guidelines. The search was performed on PubMed, Scopus, Google Scholar, and Web of Science databases, using the following search terms: ["KBG syndrome" AND ("maxillofacial" OR "orofacial" OR "craniofacial")] up to December 2025. All articles describing oral and maxillofacial manifestations in KBGS were eligible.Studies published from 1975 to December 2025 were screened. Eligible studies included cohort studies, original articles, case series, and case reports involving human subjects with KBGS reporting oral, dental, or maxillofacial features.
Fifty-four articles, comprising 1038 patients, were included. In these 54 studies, 614 patients had KBG syndrome. The most frequent clinical manifestation found was the macrodontia of the central upper incisors (87%). Then, the facial dysmorphism comprised the following signs, in descending order: triangular face (77%), synophrys (43%), prominent nasal bridge (40%), and long philtrum (20%).
KBG Syndrome should be systematically investigated in any patient presenting with malformative symptoms such as macrodontia of the central upper incisors, confirmed by radiographic evidence. Management must be multidisciplinary, involving both a maxillofacial surgeon and an orthodontist, to ensure good dentofacial harmony.
PMID:
42507818
Bibliographic data and abstract were imported from PubMed on 28 Jul 2026.
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