Facial syndromes

Question 1

primary abnormality

Answer 1

defect in the structure of an organ that can be traced back to a anomaly in development e.g cleft lip , spina bifida

Question 2

secondary abnormality

Answer 2

interruption in development of an organ resulting in a defect that can be traced back to other influences e.g trauma, infection

Question 3

agenesia

Answer 3

absence of an organ due to failed development during embryonic period

Question 4

sequence

Answer 4

single factor resultiing in numerous secondary effects e.g Pierre Robin sequence/syndrome - small mandible sees airway obstruction , backwards development of tongue

Question 5

syndrome

Answer 5

group of anomalies that can be traced to a single origin e.g chromosome 21 in downs

Question 6

Foetal alcohol syndrome characteristics

Answer 6

microcephaly (small head), deficient philtrum, short palpebral fissures, small mandible, mild mental retardation

Question 7

Hemi facial microsomia

Answer 7

one side of face normal one saide deficient
Will look okay as baby but gets progressively worse as patient grows
Spectrum of effect depending on how many neural crest cells migrated on affected side
often deaf on affected side
normal intellect

Question 8

Treacher collins syndrome (mandibulofacial dystosis)

Answer 8

deformity of first and second pharyngeal arches
sees hypoplastic mandible , hypoplastic or missing zygomatic arches, downward slant palpebral fissures

Question 9

in what gender are cleft lips and palates more common

Answer 9

cleft lip alone and cleft lip and palate more common in males
cleft palate alone is more common in females

Question 10

what is the cause (anatomical) of a cleft lip and palate

Answer 10

failure of maxillary processes and or medial nasal processes to fuse

Question 11

70% of cleft lip and palate cases are sporadic but what can be a cause of the remaining 30%

Answer 11

smoking
familial pattern
anti epileptic medication

Question 12

dental features of cleft lip and palate

Answer 12

impacted teeth , crowding, hypodontia, supernumeraries, hypoplastic teeth , caries due to difficult cleaning

Question 13

Achondroplasia

Answer 13

problems with endochondral ossification therefore long bones and base of skull affected

Question 14

Crouzons

Answer 14

premature closure of some cranial sutures
sees class III malocclusion with narrow spaced teeth , also short midface with shallow orbits and bulging eyes

Question 15

Aperts

Answer 15

premature closure of almost all cranial sutures
more severe than crouzons
Like crouzons - class III malocclusion, shallow orbits bulging eyes AND anterior open bite, maxillary hypoplasia , fused fingers/ toes