Week 11- Craniofacial Anomalies in Children Flashcards

1
Q

What are craniofacial abnormalties?

A

Group of defects caused by abnormal growth and/or development of head and face.

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2
Q

Who should we refer children with craniofacial anomalies to?

A

Paediatric dentist
Paediatrician-geneticist

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3
Q

What is macrocephaly/Megacephaly?

A

Head circumerence above average for age

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4
Q

What is the aetiology of macrocephaly/megacephaly?

A
  • Fragile X syndrome
  • Lysomal storage disorders
  • Neurofibromatosis
  • Sometimes it is familial and not assoicated with other anomalies.
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5
Q

What is microcephaly?

A

Head circumference belowmean for age

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6
Q

What factors can lead to microcephaly?

A

Alcohol

Prenatal drugs & infections

Radiation exposure

Feature of more than 400 genetic syndromes

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7
Q

What can microcephaly lead to?

A

Siezures

Intellectual disability.

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8
Q

What is craniosynostosis?

A

Premature fusion of one or more calvarial sutures.

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9
Q

What can craniosynostosis lead to?

A

Skull deformity due to restricted growth.

  • Significant changes in shape of skull, face, orbits and jaw
  • Possible brain damage, blindness, developmental delay
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10
Q

What is the most common craniosynostosis?

A

Sagittal craniosynostosis (dolichocephaly)

  • Suture running A-P
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11
Q

What is the second most common craniosynostosis?

A

Coronal craniosynostosis

  • Bilateral- brachycephaly
  • Unilateral- plagiocephaly
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12
Q

What are 2 conditions associated with craniosynostosis

A

Crouzon

Apert syndrome

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13
Q

What is metopic synostosis?

A

Premature fusion of suture in middle of forehead (trigonocephaly)

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14
Q

What are eye spacing anaomalies

A
  • Hypertelorism: widely spaced eyes
  • Hypotelorism: closely spaced eyes
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15
Q

What is coloboma and what conditions is it associated with?

A

Gap in structure of the eye

  • Treacher Collins syndrome, Goldenhar syndrome
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16
Q

What is micropthalmia and its causative factors?

A

Small eye globe

Causative factors could be prenatal exposure to alcohol teratogens, infections, chromosomal/genetic disorders.

17
Q

What is anopthalmia?

A

Complete absence of the eye globe

18
Q

What are 2 ear malformations?

A
  • Microtia
  • External auditory canal atresia
19
Q

What is the most common congenital anomaly of the head and neck?

A

Oral cleft

20
Q

What are the different oral clefts?

A
  • Cleft lip
  • Cleft lip and palate
  • Isolated cleft palate
21
Q

What are the environmental and genetic factors associated with oral clefts?

A
  • 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%)
22
Q

What is the mildest form of oral cleft?

A

Bifid uvula

23
Q

What condition is associated with lip pits?

A

Van der woude syndrome

24
Q

What are issues with oral clefts?

A
  • Interfere with feeding
  • Interfere with speech
  • Increased risk of ear infections
25
Q

What is micrognathia?

A

Small mandible

26
Q

What is Pierre Robin sequence?

A
  • Common manifestation of micrognathia
  • U-shaped cleft soft palate, glossoptosis (upper airway obstruction)
  • Can be associated with other syndromes- foetal alcohol syndrome, treacher collins syndrome
27
Q

What is the issue with relieving tongue for tongue tie if they have micrognathia?

A

Pt can choke on tongue

28
Q

What is agnathia?

A
  • Congenital absence of condylar process
  • Deviation of mandible to affected side
  • May co-exist with abnormalities of the ears, temporal bone, parotid gland, masticatory muscles and facial nerve.
29
Q

What is hemifacial microsomia?

A

One side of the face is underdeveloped

Primarily affecting the ear, mouth and mandibular areas

30
Q

What are vascular malformations in children?

A
  • Birthmark or growth composed of blood vessels present at birth.
  • They can enlarge proportionately with growth of child.
  • Also known as lymphangiomas, vascular gigantism
31
Q

What is haemangioma?

A
  • Type of birthmark
  • Most common benign tumour of the skin
  • Can be present at birth or appear in the 1st months after birth
  • Also known as strawberry haemangioma, port wine stain.
32
Q

What are characteristics of downs syndrome?

A
  • Flat facial features, small nose
  • Small inner epicanthic folds and upward slanted eyes
  • Macroglossia
  • Dental abnormalities
  • Low muscle tone
33
Q

What are characteristics of cleidocranial dysplasia?

A
  • Clavicle- absent/small
  • Open skull sutures, large fontanelles
  • Frontal bossing
  • Wormian bones in skull
  • Hypertelorism
  • Prognathic md/hypoplastic mx
  • Supernumerary teeth/delayed eruption of teeth