Genetic Abnormalities (lab)

Question 1

Autosomal-dominant, benign, Males: 100%, Females 50-75%

Affects the jaw only, bilateral symmetric swelling of the lower third ofthe face, marked fullness of the jaws, cheeks and upwardly gazing eyes

SH3BP2 mutation, self-limiting

Answer 1

Cherubism

Question 2

Premature exfoliaion of the primary dentition with permanent teeth missing or malformed

Serum calcium and phosphorus levels are within normal limits, alkaline phosphatase levels may be elevated

Answer 2

Cherubism

Question 3

Aka as albers-schonberg disease, is a rare hereditary bone condition clinically characterized by a generalized symmetric increase in skeletal density die to defective bone resorption

Answer 3

Osteopetrosis

Question 4

Three types of osteopetrosis

Answer 4

Infantile-malignant form, autosomal-recessive

Intermediate autosomal-recessive type

Autosomal-dominant

Question 5

Reduced osteoclastic acitvity

Lack of acid secretion by osteoclasts

Answer 5

Osteopetrosis

Question 6

Clinical/dental features

Bone pain
Cranial nerve compression
Pathologic fracture
Delayed dental eruption
Congenitaly absen, unerupted and malformed

Answer 6

Osteopetrosis

Question 7

Decrease in osteoclastic function and a compensatory increase in the number of osteoclasts

Failure to develop lamellar structure

Answer 7

Osteopetrois

Question 8

Treatment of osteopetrosis

Answer 8

Stem cell treatment
RANKL replacement therapy
Denosumab administration

Bone marrow transplantation

Question 9

Clinical features

Bone fragility

Skull base deformities

Blue sclera

Hearing loss

Dentinogenesis imperfecta

Wormian bones (skull)

Laxity of skin and ligaments

Answer 9

Osteogenesis imperfecta

Question 10

Four distinct types

Result of inborn error of collagen metabolism

COL IAI, COL IA2

Answer 10

Osteogenesis imperfecta

Question 11

Aplasia or hypoplasia of the clavicles, craniofacial malformation, and supernumerary/unerupted teeth

Autosomal dominant: RUNX2, regulator of bone differentiation

Answer 11

Cleidocranial dysplasia

Question 12

Autosomal-dominant ___, regulator of bone differentiation

Answer 12

RUNX2

Question 13

Dental manifestation:

• exfoliation of primary teeth is prolonged
• eruption is delayed
• supernumerary teeth, dentigerous cyst
• taurodontia and hypoplastic enamel

Answer 13

Cleidocranial dysplasia

Question 14

Treacher collins syndrome

Answer 14

Mandibulofacial dysostosis

Question 15

Affects structure of the first brancial arch

Convex facial profile with a prominent nose and retrusive chin

TCOFI

Answer 15

Mandibulofacial dysostosis

Question 16

Oral findings:

Cleft palate (30%)
Macrostomia (15%)
High arched palate and dental malocclusion
Mandibular hypoplasia
Midface deficiency

Answer 16

Mandibulofacial dysostosis

Question 17

Treatment of mandibulofacial dysostosis or treacher collins syndrome

Answer 17

Surgical correction of deformities

Question 18

Micrognathis, glossoptosis, high-arched or cleft palate

Mandibular retrognathia and hypoplasia

Airway obstruction and hypoxia

Answer 18

Pierre robin syndrome

Question 19

GAD67, PVRL1, SOX9

Answer 19

Pierre robin syndrome

Question 20

Due to genetically influence metabolic growth disturbance of the maxilla and mandible

Answer 20

Pierre robin syndrome

Question 21

A normal profile is often achieved between 4 and 6 years of age

Answer 21

Pierre robin syndrome

Question 22

Connective tissue disorder characterized by skeletal, cardiovascular, and ocular system

Answer 22

Marfan’s syndrome

Question 23

Autosomal-dominant of marfan’s syndrome

Answer 23

FBN1

Question 24

Tall, slender stature, disappropriate arms and limbs

Mitral valve prolapse

Dislocation of the lesn

Answer 24

Marfan’s syndrome

Question 25

Connective tissue disorder, defects in collagen metabolism

Answer 25

Ehlers-danlos syndrome

Question 26

Type ____ periodontal form; rapidly progressing periodontal disease

(Ehlers-danlos syndrome)

Answer 26

TypeVIII

Question 27

Complete loss of teeth in 2nd or 3rd decade of life

Answer 27

Ehlers-danlos syndrome

Question 28

Dental finding:

• deep anatomic grooves, excessive cuspal height
• stunted or dilacerated roots
• pulp calcification

Answer 28

Ehlers-danlos syndrome

Question 29

“Rubber man”

Answer 29

Ehlers-danlos syndrome