scholarly journals A case report of mandibulofacial dysostosis (Treacher Collins syndrome)

1981 ◽  
Vol 27 (2) ◽  
pp. 239-243
Author(s):  
Shinji NISHIMURA ◽  
Yasuhide TOCHIMURA ◽  
Takatoki ONO
Keyword(s):  
Case Report ◽  
Treacher Collins Syndrome ◽  
Mandibulofacial Dysostosis

Reconceptualilzing agitation in autism as primary affective dysregulation: Case report and literature review of use of quetiapine in a patient with Treacher–Collins syndrome and autism

2017 ◽  
Vol 41 (S1) ◽  
pp. S434-S434
Author(s):  
R. Cosme ◽  
S. Dharmapuri
Keyword(s):  
Case Report ◽  
Developmental Delay ◽  
Autistic Spectrum Disorder ◽  
Low Dose ◽  
Genetic Disorder ◽  
Treacher Collins Syndrome ◽  
Affective Dysregulation ◽  
Extant Literature ◽  
Competing Interest ◽  
Mandibulofacial Dysostosis

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.

scholarly journals Treacher Collins Syndrome: A Case Report

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.

Treacher Collins syndrome: A case report and review of literature

2016 ◽  
Vol 7 (2) ◽  
pp. 128
Author(s):  
Tarun Kumar ◽  
Neha Arora ◽  
AjaypalSingh Kataria ◽  
Dheeraj Sharma
Keyword(s):  
Case Report ◽  
Treacher Collins Syndrome ◽  
Review Of Literature

scholarly journals Treacher Collins syndrome: A case report and review of ophthalmic features

2016 ◽  
Vol 6 (4) ◽  
pp. 206-209 ◽  
Author(s):  
Reena Sharma ◽  
Brahmadeo Sharma ◽  
Meenu Babber ◽  
Sonali Singh ◽  
Gunjan Jain
Keyword(s):  
Case Report ◽  
Treacher Collins Syndrome

scholarly journals Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome

2011 ◽  
Vol 2011 ◽  
pp. 1-5
Author(s):  
Manoj Kumar ◽  
Rakesh Kumar ◽  
Mukesh Tanwar ◽  
Supriyo Ghose ◽  
Jasbir Kaur ◽  
...  
Keyword(s):  
Physical Examination ◽  
Medical Records ◽  
Autosomal Dominant ◽  
Common Type ◽  
Interstitial Deletion ◽  
Treacher Collins Syndrome ◽  
Autosomal Dominant Disorder ◽  
Severe Manifestation ◽  
Numerical Chromosomal Abnormality ◽  
Mandibulofacial Dysostosis

Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD). The objective of this study is to do cytogenetic analysis of a TCS family. Physical examination and all available medical records were reviewed. 50 GTG-banded metaphases were analysed to detect any structural or numerical chromosomal abnormality. Downward slanting of palpebral fissures, hypoplasia of zygomatic arch complex, and hypoplasia of mandible were present in all. Cytogenetic findings show interstitial deletion in chromosomes 5(q32-q33) and 3(q23–q25). We report four members of three generations of a family having TCS in a unique way that the deletion has been found in 3q and 5q which has not been reported. Mosaicism of deletion on 5q was detected in all affected members whereas 3q deletion was found only in one member (II.2). This finding may represent a more severe manifestation of the TCS. Thus the evaluation and counselling of the TCS patients should be undertaken with caution.

Treacher Collins Syndrome (Mandibulofacial Dysostosis)

2002 ◽  
Vol 23 (6) ◽  
pp. 1005 ◽  
Author(s):  
Miquel A. Crovetto ◽  
Fred H. Linthicum
Keyword(s):  
Treacher Collins Syndrome ◽  
Mandibulofacial Dysostosis
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