Features of Treacher Collins Syndrome And Pierre Robins Syndrome....with ppt download

Treacher Collins syndrome: 

This condition is also known as Mandibulofacial dysostosis. 

Features of this syndrome include:

1. Malar bone hypoplasia

2. Hypoplasia of ramus of mandible

3. Antimongoloid slant of palpebral fissures

4. Obliteration of fronto nasal angle

5. Colobomas of lateral third of lower eyelid

6. Abnormal eye lashes

7. Inferior extension of hair line on to cheeks

8. Malformed pinna / external auditory canal

9. Hypoplasia of orbit

Genetics:  This is an autosomal dominant syndrome seen in 1 in 50,000 live births.  Offending gene has been identified as TCS gene (Treacher Collin syndrome gene) at chromosome 5q31.

Treacher Collins Syndrome ppt

Pierre Robin Syndrome:

Features of this syndrome include:

1. Micrognathia – Abnormally small lower jaw

2. Glossoptosis – downward displacement of tongue

3. Cleft palate

4. More common in girls

Clinical features:

These patients have –

1. Feeding / breathing difficulties because of Micrognathia

2. Recurrent attacks of cyanosis

3. Cleft palate

This condition should not be considered to be a syndrome at all as they can occur in other syndromes / isolated sequential manner.  Apt word to describe this condition could be Pierre Robin sequence.  

Pierre Robin sequence has classically been observed in the following syndromes:

1. Stickler syndrome

2. Velo-cardio facial syndrome

3. Fetal alcohol syndrome

4. Treacher syndrome

It can also occur in an isolated manner.

Pierre Robin Syndrome ppt