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Journal of Indian Society of Pedodontics and Preventive Dentistry Official publication of Indian Society of Pedodontics and Preventive Dentistry
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Year : 2012  |  Volume : 30  |  Issue : 3  |  Page : 254-257

Eight year follow-up dental treatment in a patient with Treacher Collins syndrome

1 Department of Pedodontics and Preventive Dentistry, Karnavati Dental College and Hospital, Ahmedabad, Gujarat, India
2 Department of Oral Medicine and Radiology, Subharti Dental College and Hospital, Meerut, Uttarpradesh, India
3 Department of Pedodontics and Preventive Dentistry, Madha Dental College, Kundrathur, Chennai, India
4 Department of Pedodontics and Preventive Dentistry, Madha Dental College, Kundrathur, Chennai; Pacific Dental College, Udaipur, Rajasthan, India

Date of Web Publication21-Dec-2012

Correspondence Address:
E Ranadheer
Department of Pedodontics and Preventive Dentistry, Karnavati Dental College and Hospital, Ahmedabad, Gujarat
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0970-4388.105020

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Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development characterized by variable involvement of the craniofacial structures derived from the first and second branchial arches. Occurrence of this syndrome is relatively rare with wide variations in the clinical expression. Aspects of speech, appearance, and social well-being along with psychological issues are hampered in these patients. Treating such disabled children poses a great challenge not only in the medical field but also in the dental meadow. We report a case of a 5-year-old boy who presented with this syndrome and the dental treatment was carried out with a noteworthy outcome for a period of 8 years. A brief review of etiology, dental anomalies along with prognosis is documented.

Keywords: Dental anomalies, follow-up, genetic counseling, Treacher Collins syndrome

How to cite this article:
Ranadheer E, Nagaraju K, Suresh P, Updesh M. Eight year follow-up dental treatment in a patient with Treacher Collins syndrome. J Indian Soc Pedod Prev Dent 2012;30:254-7

How to cite this URL:
Ranadheer E, Nagaraju K, Suresh P, Updesh M. Eight year follow-up dental treatment in a patient with Treacher Collins syndrome. J Indian Soc Pedod Prev Dent [serial online] 2012 [cited 2022 Oct 4];30:254-7. Available from: http://www.jisppd.com/text.asp?2012/30/3/254/105020

   Introduction Top

The  Treacher Collins syndrome More Details (TCS) or  Treacher Collins-Franceschetti syndrome More Details is a rare autosomal dominant disorder of craniofacial development with high penetrance and variable expressivity. [1] It comprises a group of closely related defects in head and face, often hereditary or familial in pattern, following an irregular form of dominant transmission. Although first described by Thomson and Toynbee during 1846-1847, credit for its discovery is usually given to Berry or, especially, to Treacher Collins who described the essential components of the syndrome. Franceschetti and co-workers during the 1940s published extensive reviews of the disorder and coined the term mandibulofacial dysostosis. [2]

Occurrence of this syndrome ranges from 1 in 25,000 to 1 in 50,000 live births. Nearly, 40% of cases present familial history, whereas the remaining 60% are considered de novo mutations. [3],[4],[5],[6]

The craniofacial and intra-oral features of TCS are summarized [Table 1] and [Table 2]. [2],[3],[5],[6],[7],[8],[9] Various articles, in the dental literature, limiting to the etiology, clinical features, and treatment protocol have been published where as they are lacking in the prognostic surface. The purpose of this report is to signify on the follow-up dental treatment in 5-year-old TCS patient which not only shaped noteworthy results on his clinical appearance but also paid a boost in psychological mood of the patient and parents.
Table 1: Craniofacial and intraoral features of treacher collins syndrome[2],[3],[5],[9]

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Table 2: Clinical orofacial findings of present case[2],[3],[5],[9]

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   Case Report Top

A 5-year-old child, in the year 2003, reported with a chief complaint of missing teeth. Child was accompanied with the worried parents. Past history revealed that he was born with cleft palate, and as he grew his reciprocation for the sounds was not clear, so he was subjected to hearing tests. Tests revealed that he had severe conductive hearing loss in right and left ears. On further investigations, his ultrasonography results reported non visualization of left kidney. On further enquiry we came to be acquainted with the fact that the age of the patient's mother when she conceived this boy was 36 years and father age was 38 years.

He was further operated for the cleft palate at the age of one year and the milestones as reported by the father were delayed and the boy was lacking the normal skills that were found in his peer age groups. Orthopantomograph (OPG) and posterior-anterior (PA) [Figure 1] and [Figure 2] revealed hypoplasia of malar bone, absence of maxillary and frontal sinuses, absence of tooth buds of mandibular anteriors, and a broad concave curvature of the inferior border of the mandible. Further the patient was lost for the follow-up for almost one and half years so recording of the case details was not possible at that moment.
Figure 1: Orthopantomograph showing hypoplasia of malar bones, absence of maxillary sinus, absence of tooth buds of mandibular anteriors, and broad concave curvature of the inferior border of the mandible

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Figure 2: Posterior‑anterior view showing mid facial hypoplasia, absence of maxillary and frontal sinus, and broad concave curvature of the inferior border of the mandible

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Patient reported to us after one and half years, in June 2004, and the details were recorded as follows. Extra-oral examination of patient demonstrated facial hypoplasia (middle and lower one-third) and retruded chin which presented him with a bird-like face [Figure 3]a and b. Atypical hair growth in the neck region [Figure 3]c along with deficiency of eyelashes in the lower eyelid was observed. Intra-oral examination revealed multiple decayed teeth (63, 75, 85) anterior edentate mandibular region [Figure 4]a, and a scar in the palate [Figure 4]b.
Figure 3: (a‑c) Clinical photographs of the patient showing a bird‑like face, retrognathic mandible, and atypical hair growth in the neck

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Figure 4: (a, b) Intra‑oral photograph showing edentate anterior lower arch and a scar in the palate

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Looking all into the clinical signs and symptoms aided with roentgenographic features, we arrived at a diagnosis of Treacher Collins-Franceschetti (TCOF) syndrome. Later, this was confirmed from a pediatrician and general physician. After subjecting him to another OPG [Figure 5] we could demonstrate absence of tooth buds of maxillary canines and mandibular second premolars. These peculiar dental anomalies were in accordance with the dental anomalies enlisted by Dalben et al. [8]
Figure 5: Orthopantomograph showing absence of tooth buds of maxillary canines and mandibular second premolars

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Extractions of maxillary root stumps, root canal treatment, crown placement, and space maintainers for the proper eruption of mandibular premolars was advised. To achieve these multiple tasks in this patient we preferred to do it under general anesthesia (GA) and consent from patient's father was taken and the respective tasks were achieved.

Pulpotomy and RCT were performed in 75, 85, and 26, respectively followed by stainless steel crown with respect to the same. Functional removable appliance with four teeth, namely, 55, 54, 62, and 65, C clasp on 11 and 26, and eruption windows for 16 and 21 was provided [Figure 6]. Mandibular flipper with molar bands 75 and 85 replacing six anterior teeth, namely, 31, 32, 41, 42, 73, and 83 was given [Figure 6]. The patient was followed up for 8 years. A post-operative radiograph with every 3-year interval signified our results [Figure 7]a and b with better prognosis regarding dental problems [Figure 8].
Figure 6: Functional removable appliance in maxillary arch and mandibular flipper with molar bands

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Figure 7: (a, b) Post‑operative orthopantomograph in every 2 consecutive years showing notable outcome of our treatment protocol

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Figure 8: Intra‑oral photograph signifying the outcome pertaining to dental esthetics

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   Discussion Top

TCS is a rare congenital disorder of craniofacial development that arises as the result of mutations in the Treacher Collins-Franceschetti 1 (TCOF1) gene, which encodes a nucleolar phosphoprotein known as Treacle. [2],[7] Treacle is involved in ribosomal DNA gene transcription and acts as an important spatiotemporal regulator of ribosome biogenesis.

Insufficiency of TCOF1/Treacle results in deficient ribosome biogenesis, which is incapable of meeting the proliferative needs of the neuro-epithelium. Deficient ribosome biogenesis leads to nucleolar stress activation and stabilization of p53, which causes high degree of neuroepithelial apoptosis and consequent loss of neural crest cells (cells which ultimately give rise to the majority of the cartilage, bone, and connective tissue of the head and face during early embryogenesis. [2],[8] Thus, most craniofacial anomalies, such as those associated with TCS, are thought to arise due to defects in neural crest cell formation, proliferation, migration, and/or differentiation. [6] Age of the parents might be the contributing feature in the present case.

TCS is typified by variable involvement of the craniofacial and oral structures derived from the first and second branchial arches [Table 1]. Malocclusion and anterior open bite is expected in all patients with TCS due to the hypoplastic zygoma and mandible which further interferes with the speech and thus a negative impact on the psychology of the patients is also a serious consequence which should be handled out. In the present case, we were able to handle out these situations and after a long-term treatment which comprised a 8-year period we were able to bring smiles on the patient and the parents. Psychological aspect of the patient and parents were contented.

The major challenges in facing the TCS clinical and research community in terms of improving the prognosis of affected or at-risk individuals reside in three key areas: Early detection, repair, and prevention. Use of advanced and new aids like ultrasonography and magnetic resonance imaging (MRI) can aid in diagnosing the children with these defects in the embryonic stage and moreover genetic counseling in the patients with elder age group might prevent the occurrence of these congenital diseases.

Ultimately, our long-term goal should be to identify a natural compound that could be administered before and during pregnancy, such as folic acid, that will provide measurable protection for the embryo from apoptosis without detrimental side effects during the 3 to 12-week period when the embryo is most susceptible to the development of craniofacial and other anomalies.

   References Top

1.Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, Igawa H, et al. Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis. Am J Med Genet A 2005;134:363-7.  Back to cited text no. 1
2.Gorlin RJ, Cohen MM, Hennekam RC. Branchial arch and oral-acral disorders. In: Gorlin RJ, Cohen MM, Hennekam RC, editors. Syndromes of Head and Neck. 4 th ed. Oxford: Oxford University Press; 2001. p. 799-802.  Back to cited text no. 2
3.Shafer WG, Hine MK, Levy BM, Tomich CE. Shafer's Textbook of Oral Pathology. 5 th ed. India: Elsevier India Private Limited; 2005. p. 986-8.  Back to cited text no. 3
4.Jones KL, Smith DW, Harvey MA, Hall BD, Quan L. Older paternal age and fresh gene mutation: Data on additional disorders. J Pediatr 1975;86:84-8.  Back to cited text no. 4
5.Shete P, Tupkari J, Benjamin T, Singh A. Treacher Collins syndrome. J Oral Maxillofac Pathol 2011;15:348-51.  Back to cited text no. 5
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6.Dixon J, Trainor P, Dixon MJ. Treacher Collins syndrome. Orthod Craniofac Res 2007;10:88-95.  Back to cited text no. 6
7.Arvystas M, Shprintzen RJ. Craniofacial morphology in Treacher Collins syndrome. Cleft Palate Craniofac J 1991;28:226-30.  Back to cited text no. 7
8.da Silva Dalben G, Costa B, Gomide MR. Prevalence of dental anomalies, ectopic eruption and associated oral malformations in subjects with Treacher Collins syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006;101:588-92.  Back to cited text no. 8
9.Martelli-Junior H, Coletta RD, Miranda RT, Barros LM, Swerts MS, Bonan PR. Orofacial features of Treacher Collins syndrome. Med Oral Patol Oral Cir Bucal 2009;14:E344-8.  Back to cited text no. 9


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

  [Table 1], [Table 2]

This article has been cited by
1 Treacher Collins syndrome: A case study
Jenny Y. Chung,Thomas J. Cangialosi,Sidney B. Eisig
American Journal of Orthodontics and Dentofacial Orthopedics. 2014; 146(5): 665
[Pubmed] | [DOI]


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