W11 - Craniofacial Anomalies - Mistry

Question 1

Describe the knee to knee exam

Answer 1

Baby must be able to see the mother

Mother will hold the baby’s hands while its legs wrap around mom

Question 2

What is macrocephaly / megacephaly

Answer 2

Head circumference above average for age

Ex. Fragile X syndrome, neurofibromatosis type 1

• Sometimes it is just familial and not associated with other anomalies or developmental disabilities

Question 3

What is microcephaly

Answer 3

Head circumference below mean for age

• Caused by alcohol, prenatal drugs, radiaiton, prenatal infections
• Can lead to neurological and developmental issues (seizures, intellectual disability) bc skull is too small for brain

Question 4

What questions to ask mother (3)

Answer 4

Birth history → any problems during delivery?

Pregnancy history → preterm?

Head size within normal limits?

Question 5

What is craniosynostosis

Answer 5

Premature fusion of one of more calvarial sutures

• Leads to skull deformity due to restricted growth
• May lead to significant changes in the shape of skull, face, orbits and jaw, brain damage, blindness

Question 6

What is the most common suture for craniosynostosis

Answer 6

Sagittal craniosynotosis

• “dolicocephaly”
• Brain expands back to front

Question 7

Second most common craniosynostosis

Answer 7

Coronal craniosynostosis

• May be bilateral or unilateral
• ¼ of cases are syndromic - Crouzon / Aperts

Question 8

Two eye anomalies in terms of spacing

Answer 8

• Hypertelorism
  
  • Widely spaced eyes
• Hypotelorism
  
  • Narrowly spaced eyes

Question 9

What is coloboma?

Answer 9

Gap in structure of the eye

• May affect eyelid, retina, iris, optic nerve
• Ex. treacher collins syndrome

Question 10

What is micropthalmia? Cause?

Answer 10

Small eye globe

• Can be unilateral or bilateral
• Caused by exposure to alc, teratogens, infections, genetic disorders

Question 11

What is anopthalmia

Answer 11

Complete absence of the eye globe

• Caused by chromosomal anomalies or mutations in genes

Question 12

2 ear malformations

Answer 12

Microtia

External auditory canal atresia

Question 13

Causes of oral cleft

Answer 13

• Prenatal smoking and alcohol consumption
• Random

Question 14

What structure should be examined to help identify cleft?

Answer 14

Uvula

• could be “bifid uvula”

Question 15

What condition is associated with lip pits?

Answer 15

Van der Woude syndrome

Question 16

What is the Pierre Robin Sequence?

Answer 16

Common manifestion of micrognathia

• U-shaped cleft soft palate
• Glossoptosis - airway obstruction
• Can be associated with other syndromes

Question 17

What conditions are associated with micrognathia (2)

Answer 17

⅓ of micrognathia pts have associated anomalies that suggest an underlying genetic syndrome

Treacher Collins

Goldenhar syndrome

Question 18

Features of agnathia (what does it present with? What other structures are affected?)

Answer 18

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

Question 19

What is hemifacial microsomia?

Answer 19

One side of face is undeveloped

• affects primarily ear, mouth and mandibular area

Question 20

Features and cautions of vascular malformations

Answer 20

Congenital birthmark composed of arteris, veins, capillaries and lymphatic vessels

• Continue to grow
• Do not go away spontaneously
• Can lead to excessive bleeding

Question 21

Features of haemangioma

Answer 21

BIrthmark that first appears at birth or a few months after birth

• Slowly goes away
• Aka port wine stain, strawberry haemangioma

Question 22

Features of down syndrome (5)

Answer 22

• upward slanted eyes
• flat facial features
• macroglossia
• dental anomalies
• low muscle tone

Question 23

What is cherubism?

Answer 23

Cherubism is a disorder characterized by abnormal bone tissue in the jaw

Question 24

What is metopic synostosis

Answer 24

Premature fusion of the suture in the middle of the forehead

“trigonocephaly”

• Narrow forehead
• Hypotelorism
• Temples appear pinched

Question 25

Most common congenital anomaly of the head and neck

Answer 25

Oral clefts

• Cleft lip
• Cleft lip and palate
• Isolated cleft palate

Question 26

What can be taken before pregnancy and through 1st trimester to reduce chance of developing cleft

Answer 26

Folate

Question 27

Variations of cleft presentation

Answer 27

• Unilateral or bilateral
• Isolated cleft lip - complete; involves nose
• Isolated cleft lip - incomplete; just lip and skin below nose
• Bifid uvula - mildest form
• Only soft palate
• Complete cleft of hard/soft palate, alveolar process of mx and lip

Question 28

Why should clefts be treated? (4)

Answer 28

• Interferes with feeding (no seal)
• Interferes with speech
• Increased risk of ear infections
• Aesthetics

Question 29

Why must a multidisciplinary team approach be used when treating cleft lip?

Answer 29

These children require a broad range of treatment that no one type of specialist can effectively fulfil

Question 30

Examples of vascular malformations

Answer 30

Vascular gigantism

Lymphangiomas

Question 31

Features of cleidocranial dysplasia (7)

Answer 31

• Absent clavicles
• Open skull sutures
• Frontal bossing
• Hypertelorism
• Prognathic mandible
• Hypoplastic maxilla
• Supernumaries

Question 32

Parts of Mistry’s paeds examination (5)

Answer 32

• Review med hx
• Review family hx
• Physical exam
• Specialist paediatric dentist referral
• Paediatrician-geneticist referral