Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature

This case report describes the successful use of low dose quetiapine in the treatment of agitation in a patient with Treacher–Collins syndrome (TCS) and suspected autistic spectrum disorder (ASD). Results from this case report found better efficacy in controlling symptoms of agitation in ASD utilizing lower doses of quetiapine. TCS is a genetic disorder that is characterized by a mandibulofacial dysostosis but is not associated with developmental delay, nor is it associated with a high risk of co-morbid autism, and to our knowledge, there are no previous reports of a co-occurrence of TCS and ASD in the extant literature. There are reports of mandibulofacial dysostosis associated with co-morbid developmental delay that are similar but distinct from TCS, however these reports do not comment on the treatment of agitation in this patient population. The results described in this case report demonstrate a reduction of agitation with low dose quetiapine, and offers support for the reconceptualization of agitation in ASD as a primary affective dysregulation which is also in line with evidence from the extant literature regarding the neurobiologic basis of aggression.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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TREACHER COLLINS SYNDROME: CASE REPORT AND REVIEW OF LITERATURE

ANNALS AND ESSENCES OF DENTISTRY ◽

10.5368/aedj.2010.2.4.41-44.pdf ◽

2010 ◽

Vol 2 (4) ◽

pp. 41-44

Author(s):

Kotha Ravichandra Sekhar

Keyword(s):

Case Report ◽

Treacher Collins Syndrome ◽

Review Of Literature

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Treacher Collins syndrome: A case report and review of literature

Journal of Indian Academy of Oral Medicine and Radiology ◽

10.4103/0972-1363.170476 ◽

2015 ◽

Vol 27 (3) ◽

pp. 488

Author(s):

Tarun Kumar ◽

Gagan Puri ◽

Aravinda Konidena ◽

Neha Arora

Keyword(s):

Case Report ◽

Treacher Collins Syndrome ◽

Review Of Literature

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Inadvertent intracranial insertion of a soft rubber tube in a patient with Treacher-Collins syndrome: case report and review of literature

Child s Nervous System ◽

10.1007/s00381-007-0554-8 ◽

2008 ◽

Vol 24 (5) ◽

pp. 609-613 ◽

Cited By ~ 7

Author(s):

Dattatraya Muzumdar ◽

Enrique C. G. Ventureyra

Keyword(s):

Case Report ◽

Treacher Collins Syndrome ◽

Rubber Tube ◽

Review Of Literature ◽

Soft Rubber

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A case report of mandibulofacial dysostosis (Treacher Collins syndrome)

Japanese Journal of Oral & Maxillofacial Surgery ◽

10.5794/jjoms.27.239 ◽

1981 ◽

Vol 27 (2) ◽

pp. 239-243

Author(s):

Shinji NISHIMURA ◽

Yasuhide TOCHIMURA ◽

Takatoki ONO

Keyword(s):

Case Report ◽

Treacher Collins Syndrome ◽

Mandibulofacial Dysostosis

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Treacher Collins Syndrome: A Case Report

International Journal of Research and Review ◽

10.52403/ijrr.20211113 ◽

2021 ◽

Vol 8 (11) ◽

pp. 100-105

Author(s):

Niharika Kumari ◽

Gopa Kumar R Nair ◽

Vinay Mohan

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Dental Caries ◽

Fetal Development ◽

Treacher Collins Syndrome ◽

Oral Medicine ◽

Pharyngeal Arches ◽

Radiographic Features ◽

Live Births ◽

Mandibulofacial Dysostosis

The Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis or Franceschetti-Zwahlen-Klein syndrome. Treacher Collins syndrome (TCS) is related to atypical differentiation of the first and second pharyngeal arches, taking place during fetal development. Prevalence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally. This article describes clinical and radiographic features of TCS who had reported to the department of Oral Medicine and Radiology with the complaint of multiple dental caries. Also diagnosis, differential diagnosis, management and preventive aspects are discussed. Keywords: Treacher Collins syndrome, TCS, mandibulofacial dysostosis, Franceschetti-Zwahlen-Klein syndrome.

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