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Pathology - Locomotor Module > Developmental Disorders of Bone and Cartilage > Flashcards

Developmental Disorders of Bone and Cartilage Flashcards

1
Q

Brachydactyly has a phenotype of

a. Short terminal phalanges of the first digits
b. Short stature
c. Sex reversal
d. Having an extra digit

A

Short terminal phalanges of the first digits

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2
Q

What is the gene involved in brachydactyly?

A

HOXD13

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3
Q

What is camptomelic dysplasia?
a. Short terminal phalanges of the first digits
B. Congenital anomalies abnormal clavicle
C. Sex reversal, abnormal skeleton development
D. Hypoplastic nails and patella

A

Sex reversal, abnormal skeleton development

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4
Q

What is the gene involved in camptomelic dysplasia?

A

SOX9

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5
Q 
TBX5 gene mutation is associated with
A. Holt-Oram syndrome
B. Waardenburg syndrome 
C. Mail patella syndrome
D. Achondroplasia
A

Holt-Oram syndrome

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6
Q 
Holt-Oram syndrome has a phenotype of
A. Supernumerary teeth
B. Wormian bones
C. Congenital anomalies, forelimb anomalies
D. Hearing loss
A

Congenital anomalies, forelimb anomalies

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7
Q

What is the phenotypes of the cleidocranial dysplasia?
A. Hearing loss, back pain and progressive nephropathy
B. Abnormal clavicles only
C. Abnormal clavicle, supernumerary teeth, wormian bones
D. Abnormal clavicle, hypoplatic nails and Wormian bones

A

Abnormal clavicle, supernumerary teeth, wormian bones

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8
Q

What is the gene involved in cleidocranial dysplasia?

A

RUNX2

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9
Q

What is the phenotype of Waardenburg syndrome type 1 and 3?
A. Hearing loss, abnormal pigmentation, craniofacial abnormalities
B. Hearing loss, abnormal clavicle, abnormal pigmentation
C. Hearing loss, brittle bones, craniofacial abnormalities
D. Supernumerary teeth, abnormal pigmentation, craniofacial abnormalities

A

Hearing loss, abnormal pigmentation, craniofacial abnormalities

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10
Q

What is the gene involved in Waardenburg syndrome?

A

PAX3

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11
Q

What is the gene involved in Nail-Patella syndrome?

A

LMX1B

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12
Q

What is the phenotype of Nail-Patella syndrome?
A. Hypoplasia off nails, hypoplastic or aplastic patella, progressive nephropathy and dislocated radial heads
B. Hearing loss, brittle bones, craniofacial abnormalities
C. Hearing loss, back pain and progressive nephropathy
D. Hypoplasia off nails, hypoplastic or aplastic patella, progressive neuropathy and short stature

A

Hypoplasia off nails, hypoplastic or aplastic patella, progressive nephropathy and dislocated radial heads.

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13
Q

Cleidocranial dysplasia is an autosomal ___________ (dominant/recessive) disorder

A

dominant

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14
Q

_______ (gain/loss) of function mutation in RUNX2 results in cleidocranial dysplasia

A

Gain

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15
Q

What is the phenotype of cleidocranial dysplasia?

A 
Patent fontanelles
Delayed closure of cranial sutures
Delayed eruption of teeth
Supernumerary teeth
Abnormal clavicles
Short height
Wormian bone
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16
Q

______________ (achondroplasia/osteogenesis imperfecta) is the most common form of dwarfism

A

Achondroplasia

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17
Q

Achondroplasia is an _____________ (X-linked recessive/autosomal dominant) disorder resulting in retarded cartilage growth

A

autosomal dominant

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18
Q

Achondroplasia has ___________ (rhizomelic/micromelic) shortening of limbs, frontal bossing, and depression of root of the nose.

A

rhizomelic

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19
Q

In achondroplasia, 90% of cases stem from new mutations, almost all of which occur in the _________ (paternal/maternal) allele

A

paternal

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20
Q

Achondroplasia is caused by gain-of-function mutations

in the _________________

A

FGF receptor 3 (FGFR3)

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21
Q

Thanatophoric dysplasia is the most common _________ (lethal/non-lethal) form of dwarfism

A

lethal

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22
Q

What are the features of thanatophoric dysplasia?

A

Micromelic limbs (disproportionately short or small limb)
Frontal bossing
Small chest
Bell-shaped abdomen

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23
Q

How does death occurs in thanatophoric dysplasia?

A

A small chest cavity leads to respiratory insufficiency causing death

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24
Q

Thanatophoric dysplasia is caused by mutations in _________

A

FGFR3

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25
Q

One infantile form of osteopetrosis is associated with mutation of __________, resulting in decreased or absent osteoclasts

A

RANKL

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26
Q

___________ is defined as reduced bone resorption and diffuse symmetric skeletal sclerosis due to
impaired osteoclasts function/formation

A

Osteopetrosis

27
Q

What are the symptoms of osteopetrosis caused by mutations in LRP5?

A

High bone density
Hearing loss
Skeletal fragility

28
Q

What are the symptoms of osteopetrosis caused by mutations in RANKL?

A

High bone density

29
Q

What are the other names of osteopetrosis?

A

Marble bone disease

Albers-Schonberg disease

30
Q

Most of the mutations underlying osteopetrosis interfere with the process of acidification of the _______________

A

Osteoclastic resorption pit

31
Q

Autosomal recessive defects in the gene for the enzyme _______________is one main cause of osteopetrosis

A

Carbonic anhydrase 2

32
Q

CA2 is required by osteoclasts and renal tubular cells to generate __________ from carbon dioxide and water

A

Protons

33
Q

The absence of CA2 prevents osteoclasts from bone resorption, and also blocks the ___________ of urine by the renal tubular cells in osteopetrosis.

A

Acidification

34
Q

Osteopetrosis is caused by mutations in ________, which encodes a proton pump located on the surface of osteoclasts.

A

CLCN7

35
Q

Due to deficient osteoclast activity, bones involved by osteopetrosis ______ (lack/have) a medullary canal

A

Lack

36
Q

What is Erlenmeyer flask deformity?

A

The ends of long bones become bulbous and misshapen.

37
Q

Erlenmeyer flask deformity is found in ______________ (osteoporosis/osteopetrosis/osteomalacia/osteopenia)

A

Osteopetrosis

38
Q

What seems to be true about osteopetrosis?
A. Mature trabeculae and small neural foramina
B. Presence of primary spongiosa and no hematopoietic tissue

A

Presence of primary spongiosa and no hematopoietic tissue

39
Q

Deposited bone tends to be ________ (lamellar/woven) in architecture in the case of osteopetrosis.

A

Woven

40
Q

Severe infantile osteopetrosis is __________ (autosomal recessive/X-linked recessive)

A

Autosomal recessive

41
Q

Infantile osteopetrosis usually becomes evident in _______ (utero/second year of life)

A

Utero

42
Q

What are the clinical features of infantile osteopetrosis?

A 
Fracture
Anemia
Hydrocephaly
Cranial nerve defects
Leukopenia
Compensatory hepatosplenomegaly
43
Q

The mild autosomal dominant of osteopetrosis is discovered on x-ray studies performed because of __________

A

Repeated fractures

44
Q

Patient with autosomal dominant osteopetrosis may have mild cranial nerve deficits and _________

A

Anemia

45
Q

The affected enzymes are mainly ___________ in mucopolysaccharidoses

A

Acid hydrolases

46
Q

Mesenchymal cells, especially _______, normally degrade extracellular matrix mucopolysaccharides

A

Chondrocytes

47
Q

What is the pathophysiology of mucopolysaccharidoses?

A
  1. Mucopolysaccharides accumulate inside the chondrocytes causing apoptotic death of the cells
  2. They also accumulate in the extracellular space, resulting in structural defects in articular cartilage
48
Q

What are the clinical manifestations of mucopolysaccharidoses?

A

Short stature
Chest wall abnormalities
Malformed bones

49
Q

What is cartilage anlage?

A

Rudimentary form of the cartilage

50
Q

Where is cartilage anlage found in mucopolysaccharidoses?

A

Growth plates
Costal cartilage
Articulate surfaces

51
Q

Osteogenesis imperfecta is due to deficiency of type ___ collagen

A

Type I collagen

52
Q

OI principally affects bone, but also impacts other tissues rich in type I collagen. Give some examples of other tissues?

A 
Joints 
eyes 👀 
ears 👂 
skin 
teeth 🦷
53
Q

OI is usually due to ______________(Autosomal dominant/X-linked recessive)

A

Autosomal dominant

54
Q

In OI, there are mutations in the genes that encode the ____ and ____ chains of type I collagen

A

α1

α2

55
Q

Many mutations in OI lead to replacement of a _______ residue with another amino acid in the triple-helical domain.

A

Glycine

56
Q

The fundamental abnormality in OI is too ________ (little/much) bone, resulting in extreme skeletal fragility.

A

Little bone

57
Q

What are the symptoms of OI?

A

Blue sclera
Dental imperfections
Hearing loss

58
Q

Type ____ OI is the lethal form off the disease

A

II

59
Q

The frequency of fractures ________ (decreases/increases) following puberty in type I osteogenesis imperfecta

A

Decreases

60
Q 
What gene is mutated in osteopetrosis type 2?
A. CA2
B. COL2A1
C. TBX5
D. CLCN7
A

CLCN7

61
Q

Osteopetrosis type 2 is of _______ (early/late) onset

A

Late onset

62
Q 
What gene is mutated in achondrogenesis type 2
A. COL10A1
B. COL2A1
C. RUNX2
D. CA2
A

COL2A1

63
Q

What is the clinical phenotype of achondrogenesis type 2

A

Short trunk

64
Q

What gene is defected in metaphyseal dysplasia, Schmid type?

A

COL10A1

Pathology - Locomotor Module (6 decks)

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