Poster Session P18/Syndromes and Genetics/Oral Medicine and Pathology

KBG syndrome was rst reported by Herrmann et al.in 1975. This investigation sought to distinguish the most frequentmanifestations of KBG syndrome and present specic dentalndings 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 nal 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 rst-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 ndings macrodontia of the maxillarycentral incisors occurred in majority of the cases. This is the rstreport of KBG syndrome in a Chinese subject and also the onlyreport to exhibit hyperdontia and a talon cusp.link_to_OA_fulltex