Week 11- Craniofacial Anomalies in Children Flashcards
What are craniofacial abnormalties?
Group of defects caused by abnormal growth and/or development of head and face.
Who should we refer children with craniofacial anomalies to?
Paediatric dentist
Paediatrician-geneticist
What is macrocephaly/Megacephaly?
Head circumerence above average for age
What is the aetiology of macrocephaly/megacephaly?
- Fragile X syndrome
- Lysomal storage disorders
- Neurofibromatosis
- Sometimes it is familial and not assoicated with other anomalies.
What is microcephaly?
Head circumference belowmean for age
What factors can lead to microcephaly?
Alcohol
Prenatal drugs & infections
Radiation exposure
Feature of more than 400 genetic syndromes
What can microcephaly lead to?
Siezures
Intellectual disability.
What is craniosynostosis?
Premature fusion of one or more calvarial sutures.
What can craniosynostosis lead to?
Skull deformity due to restricted growth.
- Significant changes in shape of skull, face, orbits and jaw
- Possible brain damage, blindness, developmental delay
What is the most common craniosynostosis?
Sagittal craniosynostosis (dolichocephaly)
- Suture running A-P
What is the second most common craniosynostosis?
Coronal craniosynostosis
- Bilateral- brachycephaly
- Unilateral- plagiocephaly
What are 2 conditions associated with craniosynostosis
Crouzon
Apert syndrome
What is metopic synostosis?
Premature fusion of suture in middle of forehead (trigonocephaly)
What are eye spacing anaomalies
- Hypertelorism: widely spaced eyes
- Hypotelorism: closely spaced eyes
What is coloboma and what conditions is it associated with?
Gap in structure of the eye
- Treacher Collins syndrome, Goldenhar syndrome
What is micropthalmia and its causative factors?
Small eye globe
Causative factors could be prenatal exposure to alcohol teratogens, infections, chromosomal/genetic disorders.
What is anopthalmia?
Complete absence of the eye globe
What are 2 ear malformations?
- Microtia
- External auditory canal atresia
What is the most common congenital anomaly of the head and neck?
Oral cleft
What are the different oral clefts?
- Cleft lip
- Cleft lip and palate
- Isolated cleft palate
What are the environmental and genetic factors associated with oral clefts?
- Prenatal maternal use of tobacco and alcohol
- Folate taken before becoming pregnant and through 1st trimester may decrease risk
- Having an affected child increases risk of having another affected child
- Can be syndromic (30%) or non-syndromic (70%)
What is the mildest form of oral cleft?
Bifid uvula
What condition is associated with lip pits?
Van der woude syndrome
What are issues with oral clefts?
- Interfere with feeding
- Interfere with speech
- Increased risk of ear infections
