KBG syndrome – clinical features and specific dental findings

Abstract

Introduction: KBG syndrome was first reported by Herrmann et al.in 1975. This investigation sought to distinguish the most frequentmanifestations of KBG syndrome and present specific dentalfindings in a 9-year-old Chinese boy. Materials and methods: PUBMED search using the keyword KBGsyndrome yielded 20 articles. Due to disparities in the quality ofevaluations in the reports any physical feature that was notdiscussed was assumed to be absent. Five cases had to be excludedfrom the final analysis due to inadequate information.Results: Of the 54 cases including the present case, 36 (66.6%)were males, 25 (46.2%) had at least one affected first-degree-relative and parent-to-child transmission was documented in12 instances. Mental retardation or global developmental delaywas reported in 42 (77.7%) cases and 46 (85.1%) exhibitedshortness of stature. Oral features were evident in 53 (98.1%)cases; macrodontia was present in 49 (96%) documented cases;the present case was the only report to exhibit hyperdontia and atalon cusp. The other clinical features observed were craniofacialanomalies (90.7%) followed by abnormalities of the nose(88.8%), hands (88.8%), mouth (74%), eyes (70.3%), eyebrows(68.5%), philtrum (61.1%), ears (59.2%), low hairline and lowerextremity.Conclusion: The cardinal features of KBG syndrome include facialdysmorphism, short stature, skeletal anomalies and mild develop-mental delay. Of the oral findings macrodontia of the maxillarycentral incisors occurred in majority of the cases. This is the firstreport of KBG syndrome in a Chinese subject and also the onlyreport to exhibit hyperdontia and a talon cusp.