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.

scholarly journals Treacher Collins Syndrome: Genetics, Clinical Features and Management

Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1392
Author(s):  
Bożena Anna Marszałek-Kruk ◽  
Piotr Wójcicki ◽  
Krzysztof Dowgierd ◽  
Robert Śmigiel
Keyword(s):  
Hearing Loss ◽  
Fetal Development ◽  
Conductive Hearing Loss ◽  
Choanal Atresia ◽  
Treacher Collins Syndrome ◽  
Lateral Part ◽  
Pharyngeal Arches ◽  
Live Births ◽  
Pathogenic Variants ◽  
Conductive Hearing

Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of lower eyelids, midface hypoplasia, micrognathia as well as sporadically cleft palate and choanal atresia or stenosis. TCS occurs in the general population at a frequency of 1 in 50,000 live births. Four subtypes of Treacher Collins syndrome exist. TCS can be caused by pathogenic variants in the TCOF1, POLR1D, POLR1C and POLR1B genes. Genetically, the TCOF1 gene contains 27 exons which encodes the Treacle protein. In TCOF1, over 200 pathogenic variants have been identified, of which most are deletions leading to a frame-shift, that result in the formation of a termination codon. In the presented article, we review the genetics and phenotype of TCS as well as the management and surgical procedures utilized for treatment.

scholarly journals Systematic review of Kabuki Syndrome’s phenotype with KMT2D gene mutation

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Leonardo Bonini Fischetti ◽  
Julia Zaccarelli Magalhães ◽  
André Rinaldi Fukushima ◽  
Paula Waziry ◽  
Esther Lopes Ricci
Keyword(s):  
Systematic Review ◽  
Differential Diagnosis ◽  
Case Report ◽  
Animal Models ◽  
Case Reports ◽  
Accurate Diagnosis ◽  
Kabuki Syndrome ◽  
Live Births ◽  
Comparative Review ◽  
Secondary Phenotypes

Kabuki Syndrome is rare and poorly documented, initially mentioned by Niikawa and Kuroki in 1981. The prevalence of the syndrome among live births is 1:32,000. Case reports are now available, which correlates to improved techniques for accurate diagnosis. This study focused on a systematic comparative review of the phenotypes of individuals with Kabuki Syndrome, with the purpose to facilitate diagnosis. The systematic review was done with a bibliographic survey of case studies using the following databases: Pubmed, Science Direct and Google Scholar, in conjunction with the following key-words: Kabuki syndrome, phenotype, KMT2D and case report. The literature shows that patients with this syndrome present five main characteristics, besides several types of secondary phenotypes. These characteristics present variations in permeability as well as expressivity of some genes in individuals, therefore, a characterization through phenotype alone becomes limited, making it necessary to perform genetic analysis for differential diagnosis. In order to increase the knowledge and elucidate mechanisms of Kabuki syndrome, we suggest further studies that utilize animal models.

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 Congenital Supraglottic Cyst with Stridor Immediately after Birth

2015 ◽  
Vol 7 (2) ◽  
pp. 91-92
Author(s):  
Deepanava Jyoti Das ◽  
Abhijeet Bhatia ◽  
Ripan Debbarma ◽  
Kalyan Sarma
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Respiratory Distress ◽  
Surgical Resection ◽  
Live Births ◽  
Laryngoscopic Examination

ABSTRACT Congenital laryngeal cysts are rare with an estimated incidence of < 2 per 100,000 live births. We present here a case report of congenital supraglottic cyst arising from the glossoepiglottic fold that presented with respiratory distress immediately after birth. Direct laryngoscopic examination revealed a cyst in the left supraglottic area. Surgical resection was carried out and stridor disappeared following surgery. Congenital supraglottic cyst presenting with stridor immediately after birth is rarely documented but should be born in mind as a differential diagnosis. How to cite this article Das DJ, Bhatia A, Debbarma R, Sarma K. Congenital Supraglottic Cyst with Stridor Immediately after Birth. Int J Otorhinolaryngol Clin 2015;7(2):91-92.

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
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