Emanuel Sendromunda Oral bulgular ve Dental Tedaviler: Olgu sunumu

Abstract

Emanuel syndrome (ES, OMIM 609029), also known as supernumerary der(22)t(11;22), is a rare syndrome (1:110000 people) characterized by pre- and postnatal developmental delays and multiple congenital abnormalities. This is a case report of an 8-year-old boy with ES who has cardiac, musculoskeletal, auditory, visual, and renal problems and a general growth restriction with an intellectual disability and impaired speech. All primary dentition demonstrated hypomineralized areas, deep caries and mild gingival hyperplasia. Delayed eruption of both primary and permanent dentition, congenitally missing permanent second premolars and primary lateral incisors, short root forms and open apices of permanent molars, and a right posterior cross-bite were significant oro-dental findings. A necessary pulpotomy and subsequent composite restorations and extractions were performed under general anaesthesia. This case report provides a comprehensive list of systemic and oro-dental ES findings along with late dental interventions and 2-year follow-up observations that have not been reported in detail previously.