Treacher-Collins Syndrome: A Case Report

Reported from India – 17 years old girl displayed typical phenotype and genotype of TCS.

Patient presented with:




Diagnostic Images & Radiographs

Profile photograph of the patient demonstrated mandibular and zygomatic hypoplasia and antimongoloid slant of eyes.
Partial absence of lower eyelashes and coloboma of the lower lateral eyelid.
External ear abnormality and tongue-shaped process of hair on lateral aspect of face
Lateral skull revealed prominent antigonial notch and anterior open bite.
Posterioanterior skull showing mandibular and malar hypoplasia with hypertrophy of both maxillary sinus walls.

Further Testing Revealed:

Genetic Analysis

TCOF-1 gene mutation associated with TCF MILD respiratory disease.Thereby, confirming TCS diagnosis.

Auditory Brainstem Response Test

(1 year old) result: moderate bilateral conductive hearing loss

Sleep Study

(4 years old) Show: Obstructive sleep apnea

Sleep Endoscopy

(8 years old) showed severe oropharyngeal collapse by the tongue

Treatment Plan Layout

(1 year old)
  1. Tracheostomy deccanulation
  2. bilateral mandibular distraction

Patient was then advised for ortho treatment & prosthetic reconstruction of the ears.

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