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CASE REPORT
Year : 2016  |  Volume : 7  |  Issue : 2  |  Page : 128-131

Treacher Collins syndrome: A case report and review of literature


1 Department of Oral Medicine and Radiology, Swami Devi Dyal Hospital and Dental College, Panchkula, Haryana, India
2 Department of Prosthodontics, Bapuji Dental College and Hospital, Davangere, Karnataka, India

Date of Web Publication19-May-2016

Correspondence Address:
Tarun Kumar
Department of Oral Medicine and Radiology, Swami Devi Dyal Hospital and Dental College, Barwala, Panchkulla, Haryana
India
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DOI: 10.4103/0976-433X.182659

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  Abstract 

Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after E. Treacher Collins who described the essential components of the condition in 1900. The incidence of this syndrome is approximately 1 in 50,000 live births, and it affects both genders equally. It affects structures, which are derivatives of the first and second brachial arches. The most common manifestations of TCS are the antimongoloid slanting of the palpebral fissures, colobomas of the lower eyelid, hypoplasia of zygoma and mandible; and a variety of ear abnormalities. This article describes clinical and radiographic features of TCS in an 18-month-old female who had reported to the Department of Oral Medicine and Radiology.

Keywords: Orofacial manifestations, rare case, Treacher Collin's syndrome


How to cite this article:
Kumar T, Arora N, Kataria AS, Sharma D. Treacher Collins syndrome: A case report and review of literature. SRM J Res Dent Sci 2016;7:128-31

How to cite this URL:
Kumar T, Arora N, Kataria AS, Sharma D. Treacher Collins syndrome: A case report and review of literature. SRM J Res Dent Sci [serial online] 2016 [cited 2020 Oct 25];7:128-31. Available from: https://www.srmjrds.in/text.asp?2016/7/2/128/182659


  Introduction Top


 Treacher Collins syndrome More Details (TCS) otherwise known as mandibulofacial dysostosis is a congenital disorder of craniofacial development that occurs with an incidence of 1 in 50,000 live births.[1] Early descriptions were attributed to Berry (1889), Treacher Collins (1900) and Franceschetti and Klein (1949) and hence the names Berry's syndrome and Franceschetti–Zwahlen–Klein syndrome. From the structures affected and from studies in mice exposed to teratogenic cis or trans-retinoic acid, it has been deducted that the disease results from interference in the development of the first and second branchial arches.[2],[3] This syndrome may appear under different clinical types. Antimongoloid palpebral fissures, malar hypoplasia, mandibular hypoplasia, malformation of the auricular pinna, coloboma of the lower eyelids, conductive deafness, and cleft palate are among the most frequent clinical presentations.[4]


  Case Report Top


A mother brought her 18 months female child to the Department of Oral Medicine and Radiology, her complaints about the difficulty in feeding the child since birth. She gave history frequent nasal regurgitations while feeding the child. All the other developmental milestones were normal. Family history was positive with for some developmental disorder. On extraoral examination, the head was dolichocephalic with frontal bossing. Hypertelorism was evident with shrunken nose [Figure 1], [Figure 2], [Figure 3], [Figure 4]. Antimongoloid slanting palpebral fissure with sparse eyelashes was present. Ears were rudimentary with tags bilaterally. Maxilla, zygomatic bone, and mandible were hypoplastic, giving child the “bird-like” appearance. Intraorally, clefting of the hard and soft palate was evident. Hypodontia was present with 71 and 82 clinically missing [Figure 5] and [Figure 6].
Figure 1: Clinical photograph frontal view

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Figure 2: Clinical photograph lateral view

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Figure 3: No signs of digital webbing (Hands)

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Figure 4: No signs of digital webbing (Feet)

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Figure 5: Intra oral photograph

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Figure 6: Cleft palate

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Posteroanterior view of the skull was carried out to confirm the development of orofacial structures. PA skull revealed hypoplastic maxilla and mandible with underdeveloped zygoma suggestive of “copper beaten” appearance [Figure 7].
Figure 7: PA skull

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The child was referred to the department of otolaryngology to determine the hearing status of the patient. Conductive hearing loss was present bilaterally.

Child's grandfather showed similar phenotypic characters [Figure 8]. Based on the clinical, radiological and phenotypic finding a diagnosis of TCS was considered.
Figure 8: Pedigree of patient

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  Discussion Top


Thomas was first to refer to this syndrome in 1846. In 1900, Dr. E. Treacher Collin, an ophthalmologist in his case report described two child patients with malar hypoplasia. Since then the condition is named on his name. There are two possibilities that the child may develop the condition. First, when both the parents are normal and pass normal genes to the offspring. However, the child develops the condition due to a mutation in the gene. Second, the one of the parents pass already mutated genes to the offspring. TCS exhibits autosomal dominant inheritance with variable penetrance. It is caused by mutation of the TCOF1 gene, which exhibit linkage to human chromosome 5q32 locus. TCOF1 gene encodes a nuclear phosphoprotein “Treacle” that may serve as a link between rRNA gene transcription and pre-rRNA processing. Recently, Dauwerse et al. detected mutations in genes encoding subunits of RNA polymerases I and III in Treacher Collins patients. More than 60% of TCS cases have no family history and arise, as a result of de novo mutation. In 40%, the mutation may be inherited from the parents.[5],[6] The present case has shown the positive family history suggesting familial mutation transfer in TCOF1 gene, which is seen in 40% of cases. Diagnostic features of TCS include abnormalities in eyes, ears, nose/mouth, and facial bone. The vast majority [Table 1] of these features were present in this case. Based on these clinical features five clinical forms of TCS have been identified by Franceshetti and Klein.[7] They are the complete form (having all known features), an incomplete form (presenting with less severe ear, eye, zygoma, and mandibular abnormalities), the abortive form (only the lower lid pseudo coloboma and zygoma hypoplasia are present), the unilateral form (anomalies limited to only one side of the face) and the atypical form (combined with other abnormalities not usually part of this syndrome). In our case, the patient presented the incomplete form of this syndrome. Kasat and Baldawa in their article on TCS describes the obligatory features of TCS given by Axelsson et al. in 1963 which include antimongoloid palpebral fissures, anomaly of the lower eyelid, hypoplasia of malar bones and hypoplasia of mandible.[8] All these obligatory features were also seen in our case.
Table 1: Diagnostic criteria for Treacher Collins syndrome

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Differential diagnosis of TCS includes acrofacial dysostosis (Nager and Miller syndrome) and oculo auriculo vertebral spectrum (hemifacial microsomia and Goldenhar syndrome).  Nager syndrome More Details has similar facial features of TCS. In addition, thumbs may be hypoplastic, aplastic or duplicated, and the radius and ulna may be fused. Miller syndrome also has features in common with TCS, with the additional diagnostic feature of ectropion or out turning of the lower lids. The cleft lip, with or without cleft palate is more common than in TCS.[1],[7]

Hemifacial microsomia primarily affects the development of the ear, mouth, and mandible. Goldenhar syndrome shows vertebral abnormalities, epibulbar dermoids, and facial deformities.[2],[9],[10] Since this case had all the features of TCS and no additional features such as hypoplastic thumb, fusion of radius and ulna, ectropion of lower lids, cleft lip, vertebral anomalies, etc., we came up with the diagnosis of TCS.

There is no cure for TCS. Treatment is aimed at the specific needs of each individual. Many children require a multidisciplinary approach involving a craniofacial team, comprising of a pediatric otolaryngologist, audiologist, plastic surgeon, geneticist, psychologist, dental surgeons, and other healthcare professionals. Genetic counseling is highly recommended for affected individuals and their families.


  Conclusion Top


Every case of TCS is unique and needs to be assessed individually. Many features of the disease can be improved by surgery and other supportive treatments. A well-planned treatment can produce excellent results for complete restoration of the form and function of the patient. When confirmed with TCS, it is important to pay particular attention to the psychological needs too. This would in turn help to build self-esteem in a child, thereby enabling him to lead a normal life.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Marszalek B, Wójcicki P, Kobus K, Trzeciak WH. Clinical features, treatment and genetic background of Treacher Collins syndrome. J Appl Genet 2002;43:223-33.  Back to cited text no. 1
    
2.
Gorlin RJ, Cohen MM Jr, Levin LS. Syndromes of the Head and Neck. 3rd ed. New York: Oxford University Press; 1990. p. 649-52.  Back to cited text no. 2
    
3.
Posnick JC, Ruiz RL. Treacher Collins syndrome: Current evaluation, treatment, and future directions. Cleft Palate Craniofac J 2000;37:434.  Back to cited text no. 3
    
4.
Andrade EC, Júnior VS, Didoni AL, Freitas PZ, Carneiro AF, Yoshimoto FR. Treacher Collins Syndrome with choanal atresia: A case report and review of disease features. Braz J Otorhinolaryngol 2005;71:107-10.  Back to cited text no. 4
    
5.
Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, et al. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 2011;43:20-2.  Back to cited text no. 5
    
6.
Conte C, D'Apice MR, Rinaldi F, Gambardella S, Sangiuolo F, Novelli G. Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. BMC Med Genet 2011;12:125.  Back to cited text no. 6
    
7.
Kothari P. Treacher Collins syndrome — A case report. Webmedcentral Dent 2012;3:290-2.  Back to cited text no. 7
    
8.
Kasat V, Baldawa R. Treacher Collins syndrome — A case report and review of literature. J Clin Exp Dent 2011;3:E395-9.  Back to cited text no. 8
    
9.
Shete P, Tupkari J, Benjamin T, Singh A. Treacher Collins syndrome. J Oral Maxillofac Pathol 2011;15:348-51.  Back to cited text no. 9
[PUBMED]  Medknow Journal  
10.
Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: Etiology, pathogenesis and prevention. Eur J Hum Genet 2009;17:275-83.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 7], [Figure 6], [Figure 8]
 
 
    Tables

  [Table 1]



 

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