Clinical perspectives on craniofacial development

Question 1

Craniofacial malformations

Answer 1

Any congenital abnormalities of the head that interferes with physical and mental well being
Estimated around 3% of births have an identified anomaly
Craniofacial anomalities can occur in isolation or in association with other anomalies

Question 2

Classification of craniofacial anomalies

Answer 2

Embryological defects
-evident at birth
-more severe anomalies may be incompatible with life
Developmental defects
-may not be immediately apparent
-presentation often worsens with growth

Question 3

Embryological defects

Answer 3

Facial clefts: cleft lip and/ or palate, mid face clefts

First Arch anomalies: hemi facial microsomia, treacher collins syndrome

Question 4

Cleft lip and/ or palate

Answer 4

Most common craniofacial anomaly
1 in 680 births
Environmental and genetic aetiology
Wide range of presentations

Question 5

Cleft lip and palate - clinical issues

Answer 5

Facial appearance
Hearing difficulties
Speech difficulties
Dental anomalies, crowding
Oro nasal fistula 
Growth and scarring from surgery
Skeletal III pattern

Question 6

Hearing loss

Answer 6

Abnormal palatal function affects drainage of inner ear
Build up of fluid (glue ear)
Intermittant or long term hearing deficit

Question 7

Speech development

Answer 7

Half of all children with cleft palate will have speech difficulties
Some speech issues (backing) can be corrected through speech therapy whilst other issues (ansality) often require further palatal surgery to improve function.

Question 8

Missing/ malformed/ extra teeth

Answer 8

Missing upper permanent lateral incisor occurs in 30-50% of cleft cases (5% in a non cleft population)
54% of cleft cases have dental anomalies (15% in non cleft population)

Question 9

CLP surgical repair leads to restriction of

Answer 9

maxillary development

Question 10

CLP: dental disease

Answer 10

Cleft children have twice as many bad teeth as their peers
Poor oral hygiene
Severe dental crowding

Question 11

Facial clefting

Answer 11

Holoprosencephaly
Failure of the brain to divide into L and R hemispheres
Median facial clefting
All midline features affected to variable extent

Question 12

Hemifacial microsomia

Answer 12

Incidence 1 in 4000
Embryological defect
-at 4/40 gestation, interrupted blood supply to brachial arch
Restricted facial development
Range of presentations

Question 13

Treacher Collins Syndrome

Answer 13

Incidence: 1 in 50,000 births
Autosomal dominant/ mutation of gene controlling TREACLE protein
Affects amount and flow of mesenchyme in 1st and 2nd pharyngeal arches
Wide spectrum of expression

Question 14

Treacher Collins Syndrome symptoms

Answer 14

Hypoplastic maxilla (especially zygomatic arches) and mandible
Ear anomlaies often with atresia of auditory canals
Ocular anomalies - coloboma
Cleft palate/ high arched palate
Airway problems

Question 15

Developmental defects

Answer 15

Craniosynostoses e.g.

• Crouzon’s syndrome
• Apert’s sundrome
• Achondroplasia

Question 16

Craniosynostosis

Answer 16

Premature fusion of 1 or more fibrous sutures resulting in distortion/ abnormal cranial development and facial features
Birth prevalence: 1 in 2,000 with 20% linked to syndromes
Aetiology - autosomal dominant/ spontaneous mutation

Question 17

Craniosynostosis: Crouzon’s syndrome

Answer 17

Incidence is 1:25,000
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)

Question 18

Craniosynososes: clinical issues

Answer 18

Facial appearance
> intra cranial p - often require early and subsequent surgery
Hydrocephalus
Restricted mid face development: choanal atresia, onstructive sleep apnoea
High arched palate
Speech difficulties
Hearing difficulties
Class III skeletal pattern

Question 19

Craniosynososis: Apert syndrome

Answer 19

Incidence 1 in 50,000

Similar facial presentation to Crouzon but also has associated syndactyly

Question 20

Craniosynostosis: achondroplasia

Answer 20

Incidence between 1 in 15,000 and 1 in 40,000
Autosomal dominant
Abnormality of cartilage formation causing shortened limbs (dwarfism)

Question 21

Dental care

Answer 21

Understand multidisciplinary nature of care for these individuals
Prevention as a high priority
Ensure routine care is accessible and crucial part of complex overall treatment plan