Oral and dental findings in emanuel syndrome.
Int J Paediatr Dent
; 29(5): 677-682, 2019 Sep.
Article
en En
| MEDLINE
| ID: mdl-30980693
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 (1110 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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Fisura del Paladar
/
Trastornos de los Cromosomas
/
Discapacidad Intelectual
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Int J Paediatr Dent
Asunto de la revista:
ODONTOLOGIA
/
PEDIATRIA
Año:
2019
Tipo del documento:
Article