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 Table of Contents  
Year : 2015  |  Volume : 27  |  Issue : 3  |  Page : 488-491

Treacher Collins syndrome: A case report and review of literature

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

Date of Submission07-Mar-2015
Date of Acceptance05-Nov-2015
Date of Web Publication25-Nov-2015

Correspondence Address:
Tarun Kumar
Department of Oral Medicine and Radiology, Swami Devi Dyal Hospital and Dental College, Barwala, District - Panchkulla, Haryana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0972-1363.170476

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Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after Treacher Collins who described the essential components of the condition in 1900. 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 eyelids, hypoplasia of zygoma and mandible, and various ear abnormalities. This article describes the 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 implications, orofacial manifestations, rare case, Treacher Collins syndrome

How to cite this article:
Kumar T, Puri G, Konidena A, Arora N. Treacher Collins syndrome: A case report and review of literature. J Indian Acad Oral Med Radiol 2015;27:488-91

How to cite this URL:
Kumar T, Puri G, Konidena A, Arora N. Treacher Collins syndrome: A case report and review of literature. J Indian Acad Oral Med Radiol [serial online] 2015 [cited 2022 Aug 10];27:488-91. Available from: https://www.jiaomr.in/text.asp?2015/27/3/488/170476

   Introduction Top

Treacher Collins syndrome (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 given by 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 deduced 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 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-month-old female child to the Department of Oral Medicine and Radiology. She complained about difficulty in feeding the child since birth. She gave a history of frequent nasal regurgitations while feeding the child. All the other developmental milestones were normal. Family history was positive for similar developmental disorder according to the patient. On extraoral examination, the head was dolichocephalic with frontal bossing. Hypertelorism was evident with shrunken nose. Antimongoloid slanting palpebral fissure with sparse eyelashes was present [Figure 1]. Ears were rudimentary with tags bilaterally. Maxilla, zygomatic bone, and mandible were hypoplastic, giving the child a "bird-like" appearance [Figure 2]. No evidence of webbing was noted in the hands and feet [Figure 3]a and b]. Intraorally, clefting of hard and soft palate was evident [Figure 4]a]. The eruption pattern of the deciduous teeth seemed to be disturbed with the lower second molar erupting before the lower lateral incisor, canine and first molar [Figure 4]b]. Posteroanterior (PA) view of skull was taken to confirm the development of orofacial structures. PA skull revealed hypoplastic maxilla and mandible with underdeveloped zygoma, suggestive of "copper beaten" appearance [Figure 5]. The child was referred to the Department of Otolaryngology to determine the hearing status of the patient. Conductive hearing loss was present bilaterally. The child's grandfather showed similar phenotypic characters [Figure 6]. Based on the clinical, radiological, and phenotypic findings, a diagnosis of TCS was considered.
Figure 1: Frontal profile showing dolichocephalic head with frontal bossing, hypertelorism, shrunken nose, antimongoloid slanting palpebral fissure and sparse eyelashes

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Figure 2: Lateral Profile showing rudimentary ears with hypoplastic maxilla, zygomatic bone and mandible giving the child a "bird-like" appearance

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Figure 3: No evidence of webbing noted in the (a) hands and (b) feet

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Figure 4: Intraoral photograph showing (a) cleft palate and (b) disturbed eruption pattern

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Figure 5: Pedigree of the patient

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Figure 6: PA view of skull showing copper beaten appearance

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   Discussion Top

Thomas was the first scientist to refer to this syndrome in 1846. In 1900, Dr. E. Treacher Collins, an ophthalmologist, described in his case report two child patients with malar hypoplasia. Since then, the condition has been named after him. There are two possibilities that the child may develop the condition. Firstly, when both the parents are normal and pass normal genes to the offspring, the child develops the condition due to a mutation in the gene. Secondly, one of the parents passes already mutated genes to the offspring. TCS exhibits autosomal dominant inheritance with variable penetrance. It is caused by mutation of the TCOF1 gene, which exhibits 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. [5] 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% of the patients, the mutation may be inherited from the parents. [5],[6] The present case showed a 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. 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 Franceschetti and Klein. [7] They are: A 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 describe the obligatory features of TCS given by Axelsson et al. in 1963 that 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 syndromes) and oculoauriculovertebral spectrum (hemifacial microsomia and Goldenhar syndrome). Nager syndrome 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. Cleft lip with or without cleft palate is more common in this syndrome than in TCS. [1],[7] Hemifacial microsomia primarily affects 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 like 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 a pediatric otolaryngologist, audiologist, plastic surgeon, geneticist, psychologist, dental surgeons, and other healthcare professionals. Genetic counseling is highly recommended for the 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. On confirmation of 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/her 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.

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Conflicts of interest

There are no conflicts of interest.

   References Top

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
Gorlin RJ, Cohen MM Jr, Levin LS. Syndromes of the Head and Neck. 3 rd ed. New York: Oxford University Press; 1990. p. 649-52.  Back to cited text no. 2
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
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
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
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
Kothari P. Treacher Collins syndrome - A case report. Webmed Central Dent 2012;3:WMC002902.  Back to cited text no. 7
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
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  
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


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]

  [Table 1]


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