| Abstract: | Emanuel Syndrome (ES; OMIM# 609029) is a rare disorder caused by an unbalanced chromosomal translocation supernumerary der(22)t(11,22)] and characterized by multiple congenital abnormalities. With limited published cases and low prevalence (1:110 000), detailed ES‐associated oro‐dental findings have not previously been reported. This is a case report of a 14‐year‐old boy with ES who presented with congenital cardiac, renal, auditory, musculoskeletal problems, and global developmental delay. The patient was managed with risperidone, melatonin, omeprazole, guanfacine, and oxcarbazepine. Anxiety‐associated self‐injurious behaviour was seen along with stereotypic hand movements. Consistent with previous reports, microcephaly and micrognathia were noted. Oro‐facial cleft or gross asymmetry, however, was not observed. Significant oro‐dental findings included delayed eruption of primary and permanent teeth, oligodontia (two erupted and five unerupted permanent teeth), and short‐root anomaly of central incisors. The patient demonstrated anxiety‐triggered bruxism with generalized attrition. This case report provides a comprehensive list of systemic ES findings along with oro‐dental manifestations, which have previously not been reported in detail. |
