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Oral pathology > Finals - Genetic Diseases > Flashcards

Finals - Genetic Diseases Flashcards

1
Q

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

A

Cherubism

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2
Q

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

A

Cherubism

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3
Q

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

A

Elevation of orbital floor

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4
Q

Osteopetrosis is also known as

A

Marble bone disease
Albert-Schónberg disease
Osteoclerosis fragilis demiralisata

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5
Q

Characterized by marked increase in bone density

A

Osteopetrosis

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6
Q

What are the 3 distinct forms of osteopetrosis?

A

Infantile (malignant) osteopetrosis
Intermediate type
Adult benign type

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7
Q

What is the difference between infantile and adult osteopetrosis?

A

Infantile- autosomal dominant
Adult - recessive

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8
Q

What type pd osteopetrosis is osteomyelitis common

A

Infantile

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9
Q

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

A

Adult

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10
Q

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

A

Osteopetrosis

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11
Q

Is biopsy essential in osteopetrosis?

A

No

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12
Q

Treatment for osteopetrosis

A

Child: treat infection
Adult: none

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13
Q

Osteogenesis imperfecta is also known as

A

Brittle bones
Fragilitas ossium
Osteopsathyrosis
Lobstein’s disease

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14
Q

It is a condition resulting from abnormality in type 1 collagen

A

Osteogenesis imperfecta

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15
Q

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

A

OI

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16
Q

What genes are involved in OI?

A

COL1A1 -17q21
COL1A2 - 7q22.1

17
Q

What is the most common form and mildest OI?

A

Type I

18
Q

What type of OI is assoc with dentinogenesis imperfecta

A

Type 3

19
Q

Cleidocranial dysplasia is also known as

A

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

20
Q

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

A

Cleidocranial dysplasia

21
Q

What chromosome is involved in cleidocranial dysplasia

A

6p21

Gene CBFA1 OR RUNX2

22
Q

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

A

Cleidocranial dysplasia

23
Q

Crouzon’s Syndrome is also known as

A

Craniofacial dysostosis

24
Q

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

A

Crouzon’s syndrome

25
Q

What gene is involved in crouzon’s syndrome?

A

Fibroblast growth factor receptor 2 (FGFR2)

On chromosome 10q26

26
Q

Clinical feature can be described as frog face

A

Crouzon’s syndrome

27
Q

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

A

Coronal and sagittal

28
Q

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

A

Crouzon’s syndrome

29
Q

Treatment of crouzon’s syndrome

A

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

30
Q

Treacher collin’s syndrome is AKA

A

Mandibular dysostosis

31
Q

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

A

Treacher collins syndrome

32
Q

What gene is involved in treacher collins?

A

Treacle or TCOF1

chromosome: 5q32 - 933.1

33
Q

Clinical feature is bird or fish like appearance

A

Treacher collins syndrome

34
Q

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

A

Treacher

35
Q

Pierre- Robin syndrome is AKA

A

Pierre robin syndrome
Pierre robin anomalad

36
Q

Exhibits:
Micrognathia/retrognathia
Cleft palate
Glossoptosis

A

Pierre robin sequence

37
Q

This is a heritable genetic defect of connective tissue

A

Marfan syndrome

38
Q

What gene is involved in marfan syndrome?

A

FBNI gene

39
Q

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

A

Marfan syndrome

Oral pathology (7 decks)

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