Metabolic & Genetic Jaw Diseases

Question 1

Cleft palate usually occurs starting in the _____ week of embryonic life whereas cleft lip usually issues starting in the ______ week.

Answer 1

8th week, 6th week

Question 2

A child with achondroplasia has a:

Answer 2

Relatively normal torso and short arms and legs

Question 3

Type I dentinogenesis imperfecta is associated with which genetic disease?

Answer 3

Osteogenesis imperfecta

Question 4

Clinical characteristic of OI: extreme fragility and porosity of the bones with proneness to fracture. Other features?:

Answer 4

Pale blue sclera
Deafness due to otosclerosis
Abnormal teeth
Loose joints
Low muscle tone
Triangular face
Tendency toward spinal curvature

Question 5

Most common and mildest form of OI; blue sclera throughout life

Answer 5

Type I OI

Question 6

Most severe form resulting in multiple fractures just from birth process; not compatible with life

Answer 6

Type II OI

Question 7

Most severe form beyond the perinatal period

Answer 7

Type III OI

Question 8

Mild to moderately severe bone fragility

Answer 8

Type IV OI

Question 9

Hyphosphatasia is a genetic metabolic disorder of bone mineralization caused by a deficiency in:

Answer 9

Alkaline phosphatase

Question 10

An enzyme that is essential to the production of bone tissue.

Answer 10

Alkaline phosphatase

Question 11

Teeth display enlarged pulp chambers and pulp canals, deficient root development as well as alveolar bone loss.

Answer 11

Hypophosphatasia

Question 12

Pituitary adenoma in 9 year old will most likely lead to:

Answer 12

Gigantism

Question 13

Tumor prior to adolescence (nonfusion of epiphyses)

Answer 13

Gigantism

Question 14

Tumor after adolescence (fusion of epiphyses)

Answer 14

Acromegaly

Question 15

X-linked recessive condition characterized by abnormal development of the skin and associated structures (hair, nails, teeth and sweat glands). Involves all structures that are derived from the ectoderm.

Answer 15

Ectodermal dysplasia

Question 16

Clinical findings include:

Hypotrichosis
Anhidrosis ( no sweat glands leading to heat intolerance)
Depressed bridge of nose
Lack of sweat glands
Child appears much older than what she is

Answer 16

Ectodermal dysplasia

Question 17

Characterized by: hypoplasia or aplasia of the clavicles, cranial bossing, ocular hypertelorism, retained primary teeth, malaligned teeth, presence of multiple supernumerary teeth and unerupted teeth

Answer 17

Cleidocranial dysplasia

Question 18

An inherited disorder that presents the following in the neonates: severe micrognathia, mandibular hypoplasia, severe glossoptosis, and high arched or cleft palate; also characterized by respiratory problems.

Answer 18

Pierre Robin Syndrome

Question 19

Marked by hyperpigmentation of the lips and sometimes other parts of the face, hands and feet followed by the development of benign polyps called hamartomas throughout the intestines (small intestine); risk of malignancy is 18x higher than normal.

Answer 19

Peutz-Jeghers Syndrome

Question 20

Other name for osteopetrosis

Answer 20

Albers-Schonberg disease or Marble bone disease

Question 21

An absence of physiologic bone resorption owing to reduced osteoclastic activity. Manifests itself in skeletal disturbances including bone cavity occlusion, decreased hematopoietic activity and growth retardation. Bone pain and fractures are the most common.

Answer 21

Osteopetrosis

Question 22

Signs and symptoms of Paget’s disease:

Answer 22

Hypercementosis
Enlarged cranium
Headaches
Hearing loss

Question 23

Also called as osteitis deformans

Answer 23

Paget’s disease of bone

Question 24

Name this disease:

Maxilla is affected more than mandible
Pt. Complains Max. Denture Not fitting
Hypercementosis of tooth roots
Increasing size of hats
“Cotton wool” appearance of rx.
Increased serum alkaline phosphatase
Tx:?

Answer 24

Paget’s disease of bone

Calcitonin and bisphosphonates

Question 25

This condition exhibits all of the ff. Characteristics: Histologically close to central giant cell granuloma Clinically presents as non-tender swelllings Tx. is frequent monitoring Most cases occur in mandible Affects males than females

Answer 25

Cherubism

Question 26

Pathognomonic for cherubism

Answer 26

Perivascular collagen cuffing

Question 27

Radiograohic sign for cherubism

Answer 27

Multiple, well-defined multilocular radiolucencies

Question 28

A deficiency of parathyroid hormone can be treated with:

Answer 28

Vitamin D

Question 29

Most important consequence of hypoparathyroidism; ionized calcium level drops to less than 2.5-3mg/100 mL.

Answer 29

Hypocalcemia

Question 30

Clinical manifestation of hypocalcemia?

Answer 30

Tetany

Question 31

Distinct characteristic of hypoparathyroidism?

Answer 31

Chvostek sign (twitching of facial muscles)

Question 32

Dental manifestation of hypoparathyroidism?

Answer 32

Delayed eruption Pitting enamel hypoplasia Blunted root apices Tx: vitamin D

Question 33

Graves’ disease is the most acute and severe form of hyperthyroidism caused by the autoimmune disease targeting which receptor?

Answer 33

TSH receptor

Question 34

One or more nodules or lumps in the thyroid may become overactive, a condition known as:

Answer 34

Nodular goiter or Plummer disease

Question 35

Its primary role is to stimulate cellular metabolism, growth and differentiation of all tissues.

Answer 35

Thyroxin

Question 36

Most common form of hyperthyroidism occurs most frequently in women under 50

Answer 36

Grave’s disease Manifests: Goiter Exophthalmos Thickened skin over shin area

Question 37

Toxic nodular goiter; effects both genders usually over 50

Answer 37

Plummer disease Manifests: Exophthalmos May present with only cardiac disease

Question 38

Three main types of thyroiditis:

Answer 38

Hashimoto’s Subacute granulomatous Silent lymphocytic

Question 39

Severe hypothyroidism is called ______ in children, whereas it is called ______ in adults.

Answer 39

Cretinism, myxedema

Question 40

Dental findings in child with hypothyroidism:

Answer 40

Underdeveloped mandible with an overdeveloped maxilla Enlarged tongue (leads to malocclusion) Delayed eruption of teeth Deciduous teeth being retained longer

Question 41

The clinical feature of the primary form of which disease is classically described as “stones, bones, groans, and moans?”

Answer 41

Hyperparathyroidism

Question 42

Patients with hyperparathyroidism caused by renal failure (renal osteodystrophy) may develop remarkable jaw enlargement with a ________ rx appearance.

Answer 42

Ground-glass

Question 43

Histological feature of hyperparathyroidism?

Answer 43

Multinucleated giant cells Hemosidirin Extravasated rbc

Question 44

Patients with fibrosis of the brown tumors may experience the most severe manifestation in the skeleton termed:

Answer 44

Osteitis fibrosca cystica (Von Recklinghausen’s disease of bone)

Question 45

Difficulty with mastication and swallowing Higher incidence of periodontal diseases and caries Attrition of the teeth Are manifestations of what condition?

Answer 45

Cerebral palsy

Question 46

Oral manifestations of Down syndrome:

Answer 46

Mandibular prognathism Increased incidence of periodontal disease Delayed eruption of teeth Higher incidence of congenitally missing teeth Malooclusion Enamel dysplasia

Question 47

What disease is associated with a decrease in caries ?

Answer 47

Cystic fibrosis

Question 48

A congenital metabolic disorder that causes the exocrine glands to produce abnormal secretions, resulting in several symptoms.. the most important of which affect the digestive tract and lungs.

Answer 48

Cystic fibrosis

Question 49

Symptoms of Cystic Fibrosis?

Answer 49

Poor growth despite good appetite Malabsorption and foul, bulky stools (steatorrhea) Chronic bronchitis with cough Recurrent pneumonia Clubbing of fingers and toes Barrel-chested appearance

Question 50

Where in the oral cavity is malignant melanoma most commonly found?

Answer 50

Palate and maxillary gingiva

Question 51

Most malignant skin cancer?

Answer 51

Melanoma

Question 52

A malignant, epithelial cel tumor that characteristically begins as papule and enlarges peripherally, developing a central that erodes, crusts, and bleeds.

Answer 52

Basal cell carcinoma

Question 53

BCC primary cause:

Answer 53

Sun or x-ray exposure

Question 54

Risk factors of BCC:

Answer 54

Childhood sun exposure Blistering sunburns Fair skin Blue eyes Blonde Red hair