Craniofacial abnormalities Flashcards
What are embryological defects?
Evident at birth
More severe anomalies may be incompatible with life
What are developmental defects?
May not be immediately apparent
Presentation often worsens with growth
What are some examples of embryological defects?
Cleft lip and/or palate
Mid face clefts
first arch anomalies - hemi facial microsomia, treacher Collins syndrome
What is the most common craniofacial anomaly?
Cleft lip and/or palate
1 in 680 births
environmental and genetic aetiology
Wide range of presentations
What are the clinical issues with cleft lip and palate?
Facial appearance Hearing difficulties Speech difficulties Dental anomalies, crowding
Oro nasal fistula Growth and scarring from surgery
Skeletal III pattern
How can hearing be affected by abnormal palatal function?
Affects drainage of inner ear
Build up of fluid (glue ear)
Intermittent or long term hearing deficit
How do mid face clefts occur?
Holoprosencephaly
Failure of the brain to divide into L and R hemispheres
Median facial clefting - all midline features affected to variable extent
What is hemifacial microsomia?
Embryological defect at 4/40 gestation, interrupted blood supply to branchial arch
- Restricted facial development
has a range of presentations
How does treacher Collins syndrome occur?
Autosomal dominant/ mutation of gene controlling TREACLE protein
- Affects amount and flow of mesenchyme in 1st and 2nd pharyngeal arches
- Wide spectrum of expression
What are features of treacher Collins syndrome?
- Hypoplastic maxilla (espec zygomatic arches) and mandible
- Ear anomalies often with atresia of auditory canals
- Ocular anomalies - cloboma
- cleft palate/high arched palate
- airway problems
What are some examples of developmental defects?
Craniosynostoses e.g. Crouzon’s syndrome, Apert’s syndrome, Achondroplasia
What is Craniosynostosis?
Premature fusion of 1 or more fibrous sutures resulting in distortion/abnormal cranial development and facial features due to autosomal dominant or spontaneous mutation
What is Crouzon’s syndrome?
- Autosomal dominant/spontaneous mutation
- Variable expression
- Premature fusion of sutures results in abnormal skull development and raised intra cranial pressure (often needs early surgical release).
What are the clinical issues with Craniosynostoses?
Facial appearance Increased intra cranial pressure - early surgery Hydrocephalus Restricted mid face development High arched palate speech and hearing difficulties Class III skeletal pattern
What is Apert syndrome?
Similar facial presentation to Crouzon but also has associated syndactyly (2 or more digits fused together)
