Finals - Genetic Diseases

Question 1

It is a rare hereditary autosomal dominant disorder of the jaw that is caused by mutations of SH3- Binding protein, SH3BP2 on chromosome 4p16.3

Answer 1

Cherubism

Question 2

Clinical feature of this disease is chubby cheeks or symmetric bilateral aymptomatic swelling of jaws

Answer 2

Cherubism

Question 3

In cherubism, what causes the upward gaze of the patient?

Answer 3

Elevation of orbital floor

Question 4

Osteopetrosis is also known as

Answer 4

Marble bone disease
Albert-Schónberg disease
Osteoclerosis fragilis demiralisata

Question 5

Characterized by marked increase in bone density

Answer 5

Osteopetrosis

Question 6

What are the 3 distinct forms of osteopetrosis?

Answer 6

Infantile (malignant) osteopetrosis
Intermediate type
Adult benign type

Question 7

What is the difference between infantile and adult osteopetrosis?

Answer 7

Infantile- autosomal dominant
Adult - recessive

Question 8

What type pd osteopetrosis is osteomyelitis common

Answer 8

Infantile

Question 9

What type of osteopetrosis where bone defect is common such as carpal tunnel syndrome ?

Answer 9

Adult

Question 10

What genetic disease may appear as a bone within a bone or endobone

Answer 10

Osteopetrosis

Question 11

Is biopsy essential in osteopetrosis?

Answer 11

No

Question 12

Treatment for osteopetrosis

Answer 12

Child: treat infection
Adult: none

Question 13

Osteogenesis imperfecta is also known as

Answer 13

Brittle bones
Fragilitas ossium
Osteopsathyrosis
Lobstein’s disease

Question 14

It is a condition resulting from abnormality in type 1 collagen

Answer 14

Osteogenesis imperfecta

Question 15

This genetic disease is characterized by low bone density (osteopenia)

Answer 15

OI

Question 16

What genes are involved in OI?

Answer 16

COL1A1 -17q21
COL1A2 - 7q22.1

Question 17

What is the most common form and mildest OI?

Answer 17

Type I

Question 18

What type of OI is assoc with dentinogenesis imperfecta

Answer 18

Type 3

Question 19

Cleidocranial dysplasia is also known as

Answer 19

Marie and Sainton’s Disease
Scheuthauer - Marie - Sainton’s Syndrome
Mutational dysostosis

Question 20

This is a congenital disorder of bone formation manifested with clavicular hypoplasia/agenesis

Answer 20

Cleidocranial dysplasia

Question 21

What chromosome is involved in cleidocranial dysplasia

Answer 21

6p21

Gene CBFA1 OR RUNX2

Question 22

Exhibits:
-high, narrow, arched palate
-prolonged retention of deciduous teeth
-cleft palate is common
-supernumerary teeth

Answer 22

Cleidocranial dysplasia

Question 23

Crouzon’s Syndrome is also known as

Answer 23

Craniofacial dysostosis

Question 24

This is rare group of syndromes characterized by craniosynostosis or premature closing of the cranial sutures

Answer 24

Crouzon’s syndrome

Question 25

What gene is involved in crouzon’s syndrome?

Answer 25

Fibroblast growth factor receptor 2 (FGFR2) On chromosome 10q26

Question 26

Clinical feature can be described as frog face

Answer 26

Crouzon’s syndrome

Question 27

What cranial sutures are commonly obliterated in crouzon’s syndrome?

Answer 27

Coronal and sagittal

Question 28

Spine radiograph of this genetic disease reveals bifid spinous process and slight achindroplasia

Answer 28

Crouzon’s syndrome

Question 29

Treatment of crouzon’s syndrome

Answer 29

Neurosurgical approach in case of intercranial phypertension which may lead to optic atrophy

Question 30

Treacher collin’s syndrome is AKA

Answer 30

Mandibular dysostosis

Question 31

It is a rare syndrome chracterized by defect derived from 1st and 2nd branchial arches

Answer 31

Treacher collins syndrome

Question 32

What gene is involved in treacher collins?

Answer 32

Treacle or TCOF1 chromosome: 5q32 - 933.1

Question 33

Clinical feature is bird or fish like appearance

Answer 33

Treacher collins syndrome

Question 34

Exhibits: Mandibular and malar hypoplasia Malformation of external ear Cleft palate Fistulas Atypical hair growth that extend up to cheeks Antimongoloid palpebral fissures

Answer 34

Treacher

Question 35

Pierre- Robin syndrome is AKA

Answer 35

Pierre robin syndrome Pierre robin anomalad

Question 36

Exhibits: Micrognathia/retrognathia Cleft palate Glossoptosis

Answer 36

Pierre robin sequence

Question 37

This is a heritable genetic defect of connective tissue

Answer 37

Marfan syndrome

Question 38

What gene is involved in marfan syndrome?

Answer 38

FBNI gene

Question 39

Exhibits: Arachnodactyly Thoracolumbar scoliosis /kyphosis Skull is long and narrow High arched palatal vault Bifid uvula malocclusion Multiple odontogenic cyst

Answer 39

Marfan syndrome