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CASE REPORT Table of Contents   
Year : 2006  |  Volume : 17  |  Issue : 2  |  Page : 78-81
Prosthetic management of a patient with Treacher Collins syndrome

Department of Prosthodontics, Meenakshi Ammal Dental College and Hospital, Maduravoyal, Chennai, India

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Treacher Collins syndrome encompasses a group of closely related defects of the head and neck. It is a rare syndrome characterized by bilaterally symmetrical abnormalities derived from the first and second brachial arches and the nasal placode. It is an autosomal dominant disorder and its occurence ranges from 1 in 25,000 to 1 in 50,000 live births. The facial appearance of these patients can be improved by either surgical or prosthetic rehabilitation. In this case report we are presenting the features of a 13-year-old boy with Treacher Collins syndrome. A multidisplinary approach was followed in managing the situation. The various treatment options and the steps involved in making an auricular prosthesis are also discussed.

Keywords: Treacher Collins syndrome, auricular prosthesis, facial rehabilitation

How to cite this article:
Madhan R, Nayar S. Prosthetic management of a patient with Treacher Collins syndrome. Indian J Dent Res 2006;17:78-81

How to cite this URL:
Madhan R, Nayar S. Prosthetic management of a patient with Treacher Collins syndrome. Indian J Dent Res [serial online] 2006 [cited 2023 Feb 6];17:78-81. Available from:

   Introduction Top

 Treacher Collins syndrome More Details is one of the developmental anomalies that affect the oral and maxillofacial region. It is characterized by anomalies of ear and eyes, hypoplasia of zygoma and mandible. Clefts of lip and palate are also often observed. The clinical appearance of such affected individuals can be improved with maxillofacial prosthesis and/or cosmetic surgeries. In this case report, we are discussing the clinical features, diagnosis and the steps involved in rehabilitation of a case of Treacher Collins syndrome.

   Case report Top

A 13-year-old boy was brought to our institution by his father with a chief complaint of missing ears and forwardly placed teeth [Figure - 1]. Family history revealed that his parents had consanguteous marriage and he was the only affected child in their family. Extra-oral examination showed deformed pinnae which were flabby with no cartilage. An extra tag of tissue was present anterior to the right ear. Zygoma and mandible were underdeveloped. Intraoral examination revealed macrostomia, mixed dentition, caries in relation to 16,26,36 and 46 and arootrernnant in 53 region. The patienthad classic Angle's class It malocclusion with anterior open bite and high arched palate. Radiographic examination exhibited underdeveloped zygoma, prominent antigonial notch and absence of external auditory canals. Based on these findings he was diagnosed as having Treacher Collins syndrome.

The clinical condition demanded the need of fabricating ear prosthesis to cover the deformed ears and a combination of orthodontic and surgical intervention to correct the malocclusion and facial deformity.

The first step in making the ear prosthesis was to make an impression of defect areas. Impressions were made using irreversible hydrocolloid impression material following the standard procedure and working casts were obtained [1] [Figure 2,3]. A donor with appropriate sized ear was selected to make wax patterns. The impressions of donor ears was also made similar to the above mentioned procedure. Molten wax was poured into the set impressions and allowed to cool [Figure - 4]. The wax patterns were retrieved from the impression after complete set. To achieve good tissue contact, the tissue surface of the wax pattern was slightly warned and adapted onto the working casts [Figure - 5].

The adapted wax patterns were tried individually on the patient and modified to suite his facial appearance. After modifications both the wax patterns were tried simultaneously to finalize their position supero inferiorly and antero posteriorly [Figure - 6]. An appropriate spectacle frame was selected for the patient. An acrylic plate was created in the stem of the spectacle to retain the prosthesis [Figure - 7]. The wax patterns were finally postioned and adapted to the modified frame.

The next step was to acrylize these final wax patterns. The wax patterns were invested in a denture flask using irreversible hydrocolloid impression material [Figure - 8]. After the material was set, the wax patterns were retrieved. A mixture of tooth colored, pink and clear self curing acrylic resin was used to make the prosthesis. Color was incorporated in the monomer incrementally to achieve desired skin tone. Small increments of polymer and monomer were mixed and tried against the patient's face in every stage [Figure - 9]. Once the required shade was obtained, adequate amount of polymer and monomer were mixed to fill both the moulds [Figure - 10]. The resin was allowed to polymerize completely.

After trimming, both the prosthesis were tried on the patient's face. Extrinsic staining and final modifications were made. The positions of prosthesis were finalized and marked on the patient's face with a marker. The prosthesis was luted to the spectacle frame using cyanoacrylate. A separating sheet was placed between the skin and prosthesis to avoid any tissue damage by cyanoacrylate [Figure - 11]. Later the prosthesis was stabilized with the frame using self curing resin. Elastic bands were added to the posterior aspect of prosthesis to enhance the retention. The patient was instructed about the use and maintenance of the prosthesis [Figure - 12].

   Discussion Top

Treacher Collins syndrome or mandibulo facial dysostosis is a rare syndrome, characterized by bilaterally symmetrical abnormalities derived from the first and second branchial arches and the nasal placode [2],[3]. It is also called as Franceschetti syndrome [4]. It is an autosomal dominant disorder and its occurrence ranges from 1 in 25,000 to 1 in 50,000 live births [3]. The condition has variable expressivity and the severity of the clinical features and tends to be greater in subsequent generations of the same family. Approximately 60% of cases as reported in the literature represent new mutations and these often are associated with increased paternal age [2].

Patients with Treacher Collins syndrome exhibit the following characteristic features. They have a convex facial profile. The eyes have an anti-mongoloid slant of the palpebral fissure. External ears are often absent, malformed or malposed. Hearing is impaired as aresult of the variable degrees of hypoplasia of the external auditory canals and ossicles of the middle ears. Other findings are hypoplasia of zygoma, maxilla and mandible with variable effects on the temperomandibular joints and muscles of mastication. The mandible is underdeveloped, resulting in aretruded chin. Variably the patients may also show macrostomia due to lateral clefring and cleft palate with or without cleft lip [2],[3]. These facial features have been described as bird like or fish like in nature [4].

The facial appearance can be improved by either surgical or prosthetic rehabilitation. Multiple cosmetic surgeries must be performed to correct the deformities of the eyes, zygomas, ears and nose. The malocclusion and deformities of jaws can be treated by combining orthodontic therapy and orthognathic surgery. All surgical reconstructions must be staged to coincide with facial growth patterns, visceral function and psychological development [3]. To our patient, auricular prosthesis, orthodontic therapy and orthognathic surgery were suggested to correct the deformed ear, malocclusion and skeletal discrepancy ofjaws respectively.

Surgical reconstruction of ear results in morphology that is less similar to opposite side ear because of its complex nature and it is considered to be one of the most demanding challenges for the plastic surgeons [5]. Prosthesis fabrication is the most conservative method of correcting the ear deformity [5]. The commonly followed technique in making the wax pattern is to make an impression and cast of the contralateral ear to be used as reference while sculpting the wax pattern. In the literature various techniques have been suggested for sculpting the pattern [6],[7],[8]. We had used impression of donors' ear to obtain an auricular pattern [9]. The advantages of this technique are absolute natural appearance of the pattern and is time saving.

The patient's growing age was an important factor to be considered, because prosthesis might need modification or remaking in the future to accornnodate growth changes. Considering this, during acrylization irreversible hydrocolloid material was used to invest the wax pattern rather than dental plaster. By this method we were able to salvage the wax pattern for future needs. In the literature to preserve the wax pattern a combination of dental stone and putty polyvinyl siloxane had been suggested for investing [9].

The benefits of craniofacial osseointegration can also be used to enhance the retention of auricular prosthesis. The placement of implants mustbe after 15 years of age, to get sufficient thickness of temporal and mastoid bones for good implant anchorage [5]. The latest technology like computerised tomography, magnetic resonance imaging or laser surface scanning can be used to obtain three dimensional images of contralateral ear. In the computer the image can be manipulated to get mirror image or to establish the exact dimension needed. The data can be used to manufacture template for final prosthesis using computer numeric controlled milling machine or rapid prototyping systems [5],[6]. Tissue engineering studies done in animal models have also opened up many avenues of potential clinical applications of surgical treatment for these affected patients [5].

   Conclusion Top

Management of Treacher Collins Syndrome needs a multidisciplinary approach. The treatment plan must be custom made to meet the individual patients need, considering the growth patterns, function and psychological development. The various options and fabrication of auricular prosthesis were discussed.

   Acknowledgement Top

We would like to acknowledge the timely suggestions and help rendered by Dr. K. Chandrasekharan Nair, MDS, Professor and Head, Department of Prosthodontics, AECS Maruti Dental College, Bangalore.

   References Top

1.Brown KE: Fabrication of ear prosthesis, J ProsthetDent, 21:670-676,1969.  Back to cited text no. 1    
2.Neville BW, Damm DD, Allen CN, Bonquot JE: Oral and maxillofacial pathology (2 asub ed), Saunders, Philadelphia, Pennsylvania-39-40, 2004.  Back to cited text no. 2    
3.Posnick JC: Treacher Collins syndrome: Perspectives in evaluation and treatment, J Oral Maxillofac Surg, 55:1120-1133,1997.  Back to cited text no. 3    
4.Shafer WG, Hine MK, Levy BM, Tomich CE: A textbook of oral pathology, 4th edition, WB Saunders Company, Philadelphia, 681-682,1983.   Back to cited text no. 4    
5.Wang RR andres CJ: Hemifacial microstomia and treatment options for auricular replacement a review of literature, J Prosthet Dent, 82:197-204, 1999.  Back to cited text no. 5    
6.Sykes LM, Parrott Am, Owen P, Snaddon DR: Applications of rapid prototyping technology in maxillofacial prosthetics, Inc J Prosthodont, 17: 454-459,2004.  Back to cited text no. 6    
7.Nusinov JC, Gay WD: A method for obtaining the reverse image of an ear, JProsthetDent, 44:68-71, 1980.  Back to cited text no. 7    
8.Lemon JC Chambers MS, Wesley PJ, Martin JW: Technique for fabricating a mirror-image prosthetic ear, J ProsthetDent, 75:292-293,1996.   Back to cited text no. 8    
9.Asher ES, Evans TH. Wright RF, Wazen IT: Fabrication and use of a surgical template for placing implants to retain auricular prosthesis, J ProsthetDent, 81:228-33,1999.  Back to cited text no. 9    

Correspondence Address:
R Madhan
Department of Prosthodontics, Meenakshi Ammal Dental College and Hospital, Maduravoyal, Chennai
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0970-9290.29886

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[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8], [Figure - 9], [Figure - 10], [Figure - 11], [Figure - 12]

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