Genetic Abnormalities (lab) Flashcards

1
Q

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

A

Cherubism

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2
Q

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

A

Cherubism

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3
Q

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

A

Osteopetrosis

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4
Q

Three types of osteopetrosis

A

Infantile-malignant form, autosomal-recessive

Intermediate autosomal-recessive type

Autosomal-dominant

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5
Q

Reduced osteoclastic acitvity

Lack of acid secretion by osteoclasts

A

Osteopetrosis

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6
Q

Clinical/dental features

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

A

Osteopetrosis

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7
Q

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

Failure to develop lamellar structure

A

Osteopetrois

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8
Q

Treatment of osteopetrosis

A

Stem cell treatment
RANKL replacement therapy
Denosumab administration

Bone marrow transplantation

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9
Q

Clinical features

Bone fragility

Skull base deformities

Blue sclera

Hearing loss

Dentinogenesis imperfecta

Wormian bones (skull)

Laxity of skin and ligaments

A

Osteogenesis imperfecta

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10
Q

Four distinct types

Result of inborn error of collagen metabolism

COL IAI, COL IA2

A

Osteogenesis imperfecta

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11
Q

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

Autosomal dominant: RUNX2, regulator of bone differentiation

A

Cleidocranial dysplasia

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12
Q

Autosomal-dominant ___, regulator of bone differentiation

A

RUNX2

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13
Q

Dental manifestation:

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

Cleidocranial dysplasia

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14
Q

Treacher collins syndrome

A

Mandibulofacial dysostosis

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15
Q

Affects structure of the first brancial arch

Convex facial profile with a prominent nose and retrusive chin

TCOFI

A

Mandibulofacial dysostosis

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16
Q

Oral findings:

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

A

Mandibulofacial dysostosis

17
Q

Treatment of mandibulofacial dysostosis or treacher collins syndrome

A

Surgical correction of deformities

18
Q

Micrognathis, glossoptosis, high-arched or cleft palate

Mandibular retrognathia and hypoplasia

Airway obstruction and hypoxia

A

Pierre robin syndrome

19
Q

GAD67, PVRL1, SOX9

A

Pierre robin syndrome

20
Q

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

A

Pierre robin syndrome

21
Q

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

A

Pierre robin syndrome

22
Q

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

A

Marfan’s syndrome

23
Q

Autosomal-dominant of marfan’s syndrome

A

FBN1

24
Q

Tall, slender stature, disappropriate arms and limbs

Mitral valve prolapse

Dislocation of the lesn

A

Marfan’s syndrome

25
Q

Connective tissue disorder, defects in collagen metabolism

A

Ehlers-danlos syndrome

26
Q

Type ____ periodontal form; rapidly progressing periodontal disease

(Ehlers-danlos syndrome)

A

TypeVIII

27
Q

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

A

Ehlers-danlos syndrome

28
Q

Dental finding:

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

Ehlers-danlos syndrome

29
Q

“Rubber man”

A

Ehlers-danlos syndrome