Metabolic Disease Flashcards

1
Q

Most common form of dwarfism

A

Achondroplasia

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2
Q

Common cause of achondroplasia

A

Sporadic mutation

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3
Q

Torso normal while limbs are shortened, normal mental status

A

Achondroplasia

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4
Q

Macrocephaly, frontal bossing, saddle like nose, maxillary hypoplasia and mandibular prognathism

A

Achondroplasia

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5
Q

Dwarfism caused by under secretion of growth hormone from anterior pituitary gland

A

Pituitary dwarfism

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6
Q

Short stature, normal body proportions, within normal limit of mental status

A

Pituitary dwarfism

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7
Q

Overproduction of growth hormone usually due to tumor before adolescence

A

Gigantism

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8
Q

Extreme height, enlarged facial soft tissues, enlarged hands and feet

A

Gigantism

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9
Q

Mandibular prognathism, true macrodontia, Hypercementosis

A

Gigantism

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10
Q

Excess production of growth hormone after adolescence

A

Acromegaly

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11
Q

Most common thyroid anomaly, females

A

Hypothyroidism

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12
Q

Congenital defect, iodine deficiency goiter, hashimoto thyroiditis

A

Hypothyroidism

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13
Q

Most common cause of hypothyroidism

A

Hashimoto thyroiditis

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14
Q

Most common cause of hypothyroidism

A

Over tx of hyperthyroidism

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15
Q

Puffiness of face and eyelids, non pitting edema, swelling of larynx

A

Hypothyroidism

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16
Q

Lethargic , weak, bradycardia, dry skinn, hypothermia, weight gain, cold intolerance

A

Hypothyroidism

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17
Q

Delayed eruption of teeth, retained deciduous teeth, underdeveloped mandible, enlarged tongue and thickened lips

A

Hypothyroidism

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18
Q

Hypothyroidism in adults, glycosaminoglycans deposition in skin

A

Myxedema

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19
Q

Hypothyroidism in children, mental retardation, short stature, delayed tooth eruption, mandibular dysplasia, swollen face and lips

A

Cretinism

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20
Q

Excessive production of thyroid hormones T3 & T4

A

Hyperthyroidism/ Thyrotoxicosis

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21
Q

Premature loss of deciduous teeth, premature eruption of permanent teeth

A

Hyperthyroidism

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22
Q

Autoantibodies directed towards receptors of TSH

A

Graves disease/ diffuse toxic goiter

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23
Q

60-90% hyperthyroidism caused by

A

Graves’ disease

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24
Q

Goiter, exophthalmos

A

Graves’ disease

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25
Q

Thyroid gland contains autonomously functioning thyroid nodules

A

Plummer’s disease/ toxic nodular goiter

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26
Q

Common consequence of low Parathyroid hormone

A

Hypocalcemia

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27
Q

Tetany & metabolic alkalosis

A

Hypoparathyroidism

28
Q

Chvostek sign, trousseau sign

A

Hypoparathyroidism

29
Q

Twitching of upper lip when facial nerve is tapped below zygomatic process

A

Chvostek sign

30
Q

Pitting enamel hypoplasia, blunted root apices, delayed eruption

A

Hypoparathyroidism

31
Q

Von Recklinghausen’s disease of bone

A

Hyperparathyroidism

32
Q

Functional parathyroid adenoma or parathyroid hyperplasia

A

Primary hyperparathyroidism

33
Q

Chronic Renal disease, chronic low levels of calcium causes

A

Secondary hyperparathyroidism

34
Q

Stones, bones. Groans, moans

A

Hyperparathyroidism

35
Q

Generalized loss of lamina dura, loose teeth, malocclusion, cortical thinning, alterations in trabecular pattern

A

Hyperparathyroidism

36
Q

Ground glass, brown tumor

A

Hyperparathyroidism

37
Q

Severe osseous changes of hyperparathyroidism

A

Osteitis fibrosa cystica

38
Q

Accumulations of hemosiderin and extravasated red blood cells

A

Brown tumor in hyperparathyroidism

39
Q

Deficiency in the enzyme alkaline phosphatase

A

Hypophosphatasia

40
Q

Premature loss of primary teeth, alveolar bone loss, enlarged pulp chambers, deficient root development

A

Hypophosphatasia

41
Q

Deficiency of vitamin D in adults which will cause softening of bone due to defective bone mineralization

A

Osteomalacia

42
Q

Hourglass thorax, bowing of long bones, increased fractures, biconcave vertebral bodies, alkaline phosphatase level high

A

Osteomalacia

43
Q

Osteomalacia in children

A

Rickets

44
Q

Weakening of bone due to loss of calcium, phosphorus causing increased risk of bone fractures

A

Osteoporosis

45
Q

Most common metabolic bone disorder

A

Osteoporosis

46
Q

Older age, reduced amount of estrogen in females

A

Osteoporosis-Primary

47
Q

Thinned cortical bone, decreased cancellous trabeculation, enlargement of medullary cavity, decreased bone density

A

Osteoporosis

48
Q

Increase in bone density, reduced osteoclastic activity

A

Osteopetrosis

49
Q

Osteomyelitis, diminished bone vascularity, tooth roots difficult to visualize

A

Osteopetrosis

50
Q

Osteopenia & bone fragility due to mutation in type I collagen genes. Less or poor quality collagen

A

Osteogenesis Imperfecta

51
Q

Fragile bones, blue sclerae, joint hyperextendibility, low muscle tone, hearing loss, curved spine, Dentinogenesis Imperfecta

A

Osteogenesis Imperfecta

52
Q

Triangular faces, frontal bossing, flattened vertex and skull base

A

Osteogenesis Imperfecta

53
Q

Most common and most severe forms of osteogenesis Imperfecta

A

Most common - type I
Most severe- type II

54
Q

Abnormal resorption and deposition of bone, weakening, male over 50. Pelvis, skull, tibia, vertebrae, humerus, sternum

A

Paget’s disease/ osteitis deformans

55
Q

Bones thick, enlarge, weak, increased risk of fracture, bone pain and bowing deformities

A

Paget’s disease

56
Q

Elevated skin temperature over affected bone, hypervascularity. Progressive growth of the head

A

Paget’s disease

57
Q

Denture doesn’t fit anymore, bilateral symmetrical jaw enlargement, acquired diastemas, loose teeth

A

Paget’s disease

58
Q

Hypercementosis, obliteration of PDL, root resorption

A

Paget’s disease

59
Q

Cotton wool appearance

A

Paget’s disease

60
Q

Osteoblast and osteoclasts forming mosaic pattern

A

Paget’s disease

61
Q

Increased alkaline phosphatase, hydroxyproline levels

A

Paget’s disease

62
Q

Tx for Paget’s

A

Calcitonin and bisphosphonates

63
Q

Cherubism most common in

A

Mandible, children by 5 years of age

64
Q

Bilateral painless bony expansion. Chubby cheeks. Eyes upturned to heaven

A

Cherubism

65
Q

Mastication problems, speech difficulty, upper airway obstruction, vision and hearing loss

A

Cherubism

66
Q

Well defined multilocular radiolucencies, soap bubble in maxilla with maxillary antrum obliteration

A

Cherubism

67
Q

Multinucleated giant cells, perivascular collagen cuffing

A

Cherubism