Oral and dental findings in emanuel syndrome

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.