Oral and dental findings in emanuel syndrome

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.

Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome

“…Short root anomaly, defined as developmentally short blunt dental roots with root-crown ratios ≤1.0 mostly affecting maxillary incisors and mandibular second premolars has incidence rates of 0.49%-2.4% (Jakobsson & Lind, 1973;Apajalahti et al, 2002;Herrera et al, 2021). It was previously reported as a dental feature of rare diseases as OdontoÀ/Hypophosphatasia, Stevens-Johnson syndrome (MIM #608579), Parry-Romberg syndrome (MIM #141300) and Emanuel syndrome (MIM #609029) (Wang et al, 2016;Puranik & Katechia, 2019;Katyal & Yadav, 2021;Aram et al, 2022). Molecular mechanisms of short root anomaly were previously elucidated, although the connection to complement pathway alterations remains still unclear (Yu et al, 2021).…”

Emanuel Sendromunda Oral bulgular ve Dental Tedaviler: Olgu sunumu

“…Clinical findings such as facial asymmetry, preauricular ear pits, ptosis, cleft palate, crowded teeth, congenitally missing teeth, cardiovascular and genitourinary defects, and musculoskeletal disorders were common. (3) Although the exact mortality rate in ES is unknown, if the patient survives infancy, longterm survival is possible. (4) This demonstrates the need for a multidisciplinary team approach involving paediatric dentists, paediatricians, ophthalmologists, ear, nose and throat (ENT) surgeons, plastic surgeons, geneticists, cardiologists, urologists, gastrologists, speech therapists and special education teachers.…”

“…Being a rare syndrome, and to the best of our knowledge, there is only one other relevant case report (3) , any information and management experiences especially about the detailed oral and dental problems of patients with ES are a valuable contribution to the ES literature.…”

Developmental Dental Anomalies of Primary and Permanent Dentition

“…Oligodontia is a dental anomaly in which there is an absence of >6 teeth excluding 3rd molars [36]. Oligodontia can be present in non-syndromic or in association with syndromes such as Ectodermal dysplasia, Orofacial digital syndrome, Witkop-tooth-nail syndrome, Van der Woude syndrome, Down syndrome, Klinefelter syndrome, Ellis van Creveld syndrome, Rieger syndrome, Incontinent Pigmenti [38], or Emanuel syndrome [39].…”

“…Comprehensive prosthetic management to replace missing teeth is recommended in non-syndromic cases. Oligodontia with syndromic association in young patients may pose some challenges due to uncooperative patient behavior and additional systemic findings [39].…”