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

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..

Fig. 1

Frontal view of the patient: Clinical signs

Fig. 2

Webbing of toes

Fig. 3

Lateral view of the patient (profile): Clinical signs

Fig. 4

Intraoral photograph showing retained deciduous teeth, missing permanent teeth and anterior crowding

Fig. 5

Orthopantomograph showing retained deciduous teeth, crowding, periapical lesion in relation to 46

Fig. 6

Lateral cephalogram showing prominent antegonial notch and underdeveloped zygoma

Fig. 7

Mother of the child

Fig. 8

Webbing of fingers and toes of the mother

Fig. 9

Posttreatment photograph showing corrected anterior teeth with a removable partial denture