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Treacher Collins Syndrome ( Mandibulo Facial Dysostosis )




Classic clinical features that can be seen :

  1. Downward slanting palpebral fissures
  2. Lowerlid coloboma
  3. Partial to total absence of lower eyelashes
  1. Auricular malformations with or without tags and pre auricular blind fistulas
  2. Stenosis or atresia of the external ear canals
  3. Middle ear and ossicular abnormalities
  1. Malar hypoplasia (hypoplastic zygomatic bones) and non fusion of the zygomatic arches
  2. Flat frontal nasal angle
  3. Hypoplastic supraorbital rims and ridges
  4. Narrow nares and hypoplastic alar cartilages
  5. tongues of hair onto cheeks
  1. Mandibular hypoplasia and severe hypoplasia of the mandibular condyle
  2. Microstomia
  3. High arched,narrow or cleft palate
  4. Dental abnormalities
Clinical Findings Present In This Boy :

- downward slanting eyes
- sparse eyebrows
- supraorbital ridges less prominent
- flat frontonasal angle

- Malar eminence less prominent
- Zygomatic arches are non fused,infact on palpation           in this patient a depression was felt

- External ear canals not present ( atresia )
- External ears - malformation

- small jaw -> micrognathia
- mandible underdeveloped

- this patient presented with history of decreased hearing...was finally diagnosed as Treacher Collins Syndrome..a rare entity ...

Reflections On Treacher Collins Syndrome.......
Check out this inspiring larger - than - life blog

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