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Case Reports
. 2011 Sep-Dec;4(3):235-9.
doi: 10.5005/jp-journals-10005-1116. Epub 2011 Apr 15.

Treacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids

Sowmya B Shetty  1 , Ann Thomas  2 , Raghavendra Pidamale  3
Affiliations
Case Reports

Treacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids

Sowmya B Shetty et al. Int J Clin Pediatr Dent. 2011 Sep-Dec.

Abstract

Treacher Collins syndrome (Mandibulofacial dysostosis) is characterized by deafness, hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of the auricle. Hypoplasia of the facial bones may be the first indicator of the disorder. We present a case report of Treacher Collins syndrome with their extraoral findings, intraoral findings and their treatment plan. We have also included the various etiological factors, clinical diagnostic aids, and multidisciplinary team approach.

Keywords: Clinical features; Mandibulofacial dysostosis; Treacher Collins syndrome; Treacle; Treatment..

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Figures

Fig. 1
Fig. 1
Frontal view of the patient: Clinical signs
Fig. 2
Fig. 2
Webbing of toes
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Fig. 3
Lateral view of the patient (profile): Clinical signs
Fig. 4
Fig. 4
Intraoral photograph showing retained deciduous teeth, missing permanent teeth and anterior crowding
Fig. 5
Fig. 5
Orthopantomograph showing retained deciduous teeth, crowding, periapical lesion in relation to 46
Fig. 6
Fig. 6
Lateral cephalogram showing prominent antegonial notch and underdeveloped zygoma
Fig. 7
Fig. 7
Mother of the child
Fig. 8
Fig. 8
Webbing of fingers and toes of the mother
Fig. 9
Fig. 9
Posttreatment photograph showing corrected anterior teeth with a removable partial denture
See this image and copyright information in PMC

References

    1. Chen H. Atlas of genetic diagnosis and counseling. Totowa, New Jersey: Humana Press; 2006. pp. 967–971.
    1. Children’s cranial association [Internet]. Available from: http://www.ccakids.com/Syndrome/Treacher Collins.pdf.
    1. Marszatek B, Wojcicki P, Kobus K, Trzeciak WH. Clinical features, treatment and genetic background of treacher collins syndrome. J Appl Genet. 2002;43(2):223–233. - PubMed
    1. Abengochea Cotaina A, Sanmiguel Gil G, Vila Sanchez M, Martinez Trens M, Baena Montilla P. Anesthesia in a patient with Treacher-Collins syndrome. Rev Esp Anestesiol Reanim. 1990 Mar-Apr;37(2):95–97. - PubMed
    1. Shah FA, Ramakrishna S, Ingle V, Dada JE, Al Khabori M, Murty PS. Treacher Collins syndrome with acute airway obstruction. Int J Pediatr Otorhinolaryngol. 2000 Aug;54(1):41–43. - PubMed

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