Craniofacial Anomalies

Question 1

single etiology that results in predictable pattern of anomalies occurring together with recognizable presentation

Answer 1

sequence

Question 2

usually a single major anomaly effecting development of surrounding structures, resulting in more anomalies

Answer 2

syndrome

Question 3

At what stage of development does fetal alcohol syndrome occur?

Answer 3

day 17 (germ layer formation)

Question 4

At what stage of development does anencephaly (absence of part of the brain and skull) occur?

Answer 4

day 18-23 (neural tube formation)

Question 5

At what stage of development does Treacher Collins syndrome occur?

Answer 5

day 19-28 (neural crest cell migration)

Question 6

At what stage of development does hemifacial microsomia occur?

Answer 6

day 19-28 (neural crest cell migration)

Question 7

At what stage of development does cleft lip occur?

Answer 7

week 4-5 (formation of organ systems)

Question 8

At what stage of development does cleft palate occur?

Answer 8

week 6-8

Question 9

At what stage of development does achondroplasia occur?

Answer 9

day 50-birth (final differentiation of facial tissues)

Question 10

At what stage of development does Crouzon’s syndrome occur?

Answer 10

day 50-birth (final differentiation of facial tissues)

Question 11

Name the craniofacial anomaly:
- extra chromosome 21 due to nondisjunction
- upslanted papebral fissures
- increased risk of perio disease, but no increased risk of caries
- midface deficiency

Answer 11

Down’s syndrome (trisomy 21)

Question 12

Name the craniofacial anomaly:
- aka mandibulofacial dysostosis
- caused by a genetic mutation that affects neural crest cell development (abnormal development of facial bones and tissues)
- downslanted papebral fissures
- microtia (small ear)
- cleft palate 35% incidence
- underdeveloped mandible

Answer 12

Treacher Collins syndrome

Question 13

Name the craniofacial anomaly:
- due to neural crest cell loss during the migration stage
- affected side exhibits deficient ear and mandibular ramus

Answer 13

hemifacial microsomia

Question 14

Name the craniofacial anomaly:
- early developing fetus exposed to high levels of ethanol (alcohol is a teratogen)
- alcohol exposure to fetus can cause neural plate tissue deficiency (abnormal brain development and microcephaly CNS problems, communication difficulty, learning problems, hearing and vision problems)
- deficient midface
- smooth philtrum, small papebral fissures, thin upper lip
- cleft lip

Answer 14

fetal alcohol syndrome

Question 15

Name the craniofacial anomaly:
- autosomal dominant genetic disease
- type of craniosynostosis (early closure of the skull)
- proptosis (bulging eyes)
- brachycephalic (short skull)
- frontal bossing (prominent forehead)
- hypertelorism (wide set eyes)
- midface deficiency, associated with class III skeletal relationship

Answer 15

Crouzon syndrome

Question 16

Name the craniofacial anomaly:
- aka acrocephalosyndactyly
- exhibits craniosynostosis (similar to crouzon with the exception of byzantine arch (narrow palate and high palatal vault) and acrocephalic (tall skull))
- syndactyly (fusion of fingers and toes, symmetric webbing of hands and feet

Answer 16

Apert syndrome

Question 17

Name the craniofacial anomaly:
- aka mucopolysaccharidosis
- two separate syndromes, but usually grouped together
- deficient in enzyme that breaks down glycosaminoglycans, resulting in their build up

Answer 17

Hurler and Hunter syndrome

Question 18

Name the craniofacial anomaly:
- sequence: micrognathia –> glossoptosis –> cleft palate
- micrognathia (smaller mandible)
- glossoptosis (tongue displaced backwards)
- clossoptosis and cleft palate make breathing and feeding difficult

Answer 18

Pierre Robins sequence

Question 19

both are due to failure of fusion of tissues during development

Answer 19

cleft lip and palate

Question 20

Cleft lip and palate are associated with what skeletal relationship?

Answer 20

class III

Question 21

cleft lip vs cleft palate

Answer 21

Cleft lip
- occurs in utero 4-6 weeks
- when medial nasal prominence and maxillary prominence fail to fuse anteiorly
- usually occurs off center and is unilateral, bilateral less common

Cleft palate
- occurs in utero at 6-8 weeks
- when medial nasal prominence and maxillary prominence fail to fuse posteriorly