W11 - Craniofacial Anomalies - Mistry Flashcards
Describe the knee to knee exam
Baby must be able to see the mother
Mother will hold the baby’s hands while its legs wrap around mom
What is macrocephaly / megacephaly
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
What is microcephaly
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
What questions to ask mother (3)
Birth history → any problems during delivery?
Pregnancy history → preterm?
Head size within normal limits?
What is craniosynostosis
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
What is the most common suture for craniosynostosis
Sagittal craniosynotosis
- “dolicocephaly”
- Brain expands back to front
Second most common craniosynostosis
Coronal craniosynostosis
- May be bilateral or unilateral
- ¼ of cases are syndromic - Crouzon / Aperts
Two eye anomalies in terms of spacing
-
Hypertelorism
- Widely spaced eyes
-
Hypotelorism
- Narrowly spaced eyes
What is coloboma?
Gap in structure of the eye
- May affect eyelid, retina, iris, optic nerve
- Ex. treacher collins syndrome
What is micropthalmia? Cause?
Small eye globe
- Can be unilateral or bilateral
- Caused by exposure to alc, teratogens, infections, genetic disorders
What is anopthalmia
Complete absence of the eye globe
- Caused by chromosomal anomalies or mutations in genes
2 ear malformations
Microtia
External auditory canal atresia
Causes of oral cleft
- Prenatal smoking and alcohol consumption
- Random
What structure should be examined to help identify cleft?
Uvula
- could be “bifid uvula”
What condition is associated with lip pits?
Van der Woude syndrome
What is the Pierre Robin Sequence?
Common manifestion of micrognathia
- U-shaped cleft soft palate
- Glossoptosis - airway obstruction
- Can be associated with other syndromes
What conditions are associated with micrognathia (2)
⅓ of micrognathia pts have associated anomalies that suggest an underlying genetic syndrome
Treacher Collins
Goldenhar syndrome
Features of agnathia (what does it present with? What other structures are affected?)
- 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
What is hemifacial microsomia?
One side of face is undeveloped
- affects primarily ear, mouth and mandibular area
Features and cautions of vascular malformations
Congenital birthmark composed of arteris, veins, capillaries and lymphatic vessels
- Continue to grow
- Do not go away spontaneously
- Can lead to excessive bleeding
Features of haemangioma
BIrthmark that first appears at birth or a few months after birth
- Slowly goes away
- Aka port wine stain, strawberry haemangioma
Features of down syndrome (5)
- upward slanted eyes
- flat facial features
- macroglossia
- dental anomalies
- low muscle tone
What is cherubism?
Cherubism is a disorder characterized by abnormal bone tissue in the jaw
What is metopic synostosis
Premature fusion of the suture in the middle of the forehead
“trigonocephaly”
- Narrow forehead
- Hypotelorism
- Temples appear pinched
Most common congenital anomaly of the head and neck
Oral clefts
- Cleft lip
- Cleft lip and palate
- Isolated cleft palate
What can be taken before pregnancy and through 1st trimester to reduce chance of developing cleft
Folate
Variations of cleft presentation
- 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
Why should clefts be treated? (4)
- Interferes with feeding (no seal)
- Interferes with speech
- Increased risk of ear infections
- Aesthetics
Why must a multidisciplinary team approach be used when treating cleft lip?
These children require a broad range of treatment that no one type of specialist can effectively fulfil
Examples of vascular malformations
Vascular gigantism
Lymphangiomas
Features of cleidocranial dysplasia (7)
- Absent clavicles
- Open skull sutures
- Frontal bossing
- Hypertelorism
- Prognathic mandible
- Hypoplastic maxilla
- Supernumaries
Parts of Mistry’s paeds examination (5)
- Review med hx
- Review family hx
- Physical exam
- Specialist paediatric dentist referral
- Paediatrician-geneticist referral
