Saturday, 16 April 2011
7:52 pm
Classic clinical features that can be seen :
EYES
- Downward slanting palpebral fissures
- Lowerlid coloboma
- Partial to total absence of lower eyelashes
- Auricular malformations with or without tags and pre auricular blind fistulas
- Stenosis or atresia of the external ear canals
- Middle ear and ossicular abnormalities
- Malar hypoplasia (hypoplastic zygomatic bones) and non fusion of the zygomatic arches
- Flat frontal nasal angle
- Hypoplastic supraorbital rims and ridges
- Narrow nares and hypoplastic alar cartilages
- tongues of hair onto cheeks
- Mandibular hypoplasia and severe hypoplasia of the mandibular condyle
- Microstomia
- High arched,narrow or cleft palate
- Dental abnormalities
- sparse eyebrows
- supraorbital ridges less prominent
- flat frontonasal angle
- 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
http://www.treachercollins.org
Reflections On Treacher Collins Syndrome.......
Check out this inspiring larger - than - life blog
http://www.treachercollins.org