Orofacial functions and oral health associated with Treacher Collins syndrome.
OBJECTIVE
The aim of this study was to describe orofacial features and functions and oral health associated with Treacher Collins syndrome (TCS) in relation to the variable phenotypic expression of the condition.


METHODS
The Nordic Orofacial Test-Screening (NOT-S), MHC Questionnaire, MHC Observation chart and clinical examinations of nasal and pharyngeal conditions and chewing and swallowing function were used to assess 19 individuals aged 5-74 years (median 34 years). TCS severity scores were calculated by a clinical geneticist.


RESULTS
Orofacial features characterizing the study group were altered profile, increased mandibular angle, narrow hypopharynx and facial asymmetry. Basic orofacial functions such as breathing, eating, facial expression and speech were affected in all subjects demonstrating orofacial dysfunction in at least two NOT-S domains (median NOT-S total score 4/12, range 2-7). Significant correlation was found between the TCS severity scores reflecting phenotypic expression and the NOT-S total scores reflecting orofacial function. Self-reported experience of dry oral mucosa was common. Overall, dental health was good with few carious lesions diagnosed, but considerable need for orthodontic treatment was documented.


CONCLUSIONS
Altered orofacial features and functions in TCS are common and often persist into late adolescence and adulthood. The functional level was correlated with the phenotypic variability of the condition. The standard of oral health was satisfactory. The findings indicated that individuals with TCS are likely to require lifelong health services related to their oral condition.
TAKO-centre, National Resource Centre for Oral Health in Rare Medical Conditions, Lovisenberg Diakonale Hospital, 0440 Oslo, Norway. pamela.asten@tako.no
Pamela
P
Asten
Nina
N
Skogedal
Hilde
H
Nordgarden
Stefan
S
Axelsson
Harriet
H
Akre
Lotta
L
Sjögreen
D000293:Adolescent; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003680:Deglutition Disorders / Q000503:physiopathology; D005149:Facial Expression; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000503:physiopathology*; D008875:Middle Aged; D009909:Oral Health; D055815:Young Adult