Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

NMSP - Exam 2 > Bones - Developmental Disorders > Flashcards

Bones - Developmental Disorders Flashcards

1
Q

What are 2 developmental disorders due to defects in Hormones and Signal Transduction Proteins?

A
  1. Achondroplasia

2. Thanatophoric Dysplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

How is Achondroplasia inherited?

A

Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What mutation causes Achondroplasia?

A

FGFR3 Gain of Function mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are the symptoms of Achondroplasia?

A

Dwarfism

- Short extremities, NORMAL trunk length, enlarged head

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

With Achondroplasia, is there a change in the patient’s longevity, intellect or reproductive organs?

A

NO

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Achondroplasia is a form of dwarfism. What part of their body is of normal length?

A

Normal trunk length

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What mutation is present with Thanatophoric Dysplasia?

A

A different FGFR3 gain of function mutation than one that is present with Achondroplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What disease is the more LETHAL form of Dwarfism?

A

Thanatophoric Dysplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What dwarfism symptom can help to differentiate Thanatophoric Dysplasia?

A

Small chest cavity!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

With Thanatophoric Dysplasia, is there a change in the patient’s longevity?

A

Yes – die soon after birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is 1 developmental disorder that is due to defects in Extracellular Proteins?

A

Osteogenesis Imperfecta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is deficient with Osteogenesis Imperfecta?

A

Deficient Type 1 Collagen Synthesis
– usually alpha 1 or alpha 2 chains

(COL1A1/2)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is deficient with Osteogenesis Imperfecta?

A

Deficient Type 1 Collagen Synthesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are the signs of Osteogenesis Imperfecta?

A

Brittle bones
Blue sclera
Hearing loss
Dental imperfections

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the signs of Osteogenesis Imperfecta?

A

Brittle bones
Blue sclera
Dental imperfections
Hearing loss

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

There are 4 subtypes of Osteogenesis Imperfecta. Some of which have mutant collagen and some have decreased normal collagen. Which is more severe?

A

Mutant collagen

17
Q

Rank the best -> worst prognosis of the types of Osteogenesis Imperfecta?

A

1
4
3
2

18
Q

Type 1 Osteogenesis Imperfecta life span and when fractures present?

A

NORMAL life span

– Fractures decrease in frequency AFTER puberty

19
Q

A patient presents with a wedge shaped face, loose joints and normal stature. What type of Osteogenesis Imperfecta do they have?

A

Type 1

20
Q

Type 2 Osteogenesis Imperfecta involves what not being formed?

A

Triple helix formation does NOT happen

21
Q

Type 2 Osteogenesis Imperfecta has what type of outlook?

A

FATAL in utero usually

22
Q

A fetus has respiratory problems, severe bone deformities and a small stature. They ultimately die in utero. What type of Osteogenesis Imperfecta did they have?

A

Type 2

23
Q

What is the treatment for Osteogenesis Imperfecta?

A

Surgical rodding of long bones

24
Q

Fractures that occur in child abuse are similar to those seen with Osteogenesis Imperfecta. What types of fractures?

A

Spiral
Rib
Fractures in multiple stages of healing with no signs of trauma

25
Q

What is 1 developmental disorder that is due to defects in Metabolic Pathways?

A

Osteopetrosis

26
Q

What is deficient with Osteopetrosis?

A

Deficient Osteoclasts

= Decreased bone resorption

27
Q

What is deficient with Osteopetrosis?

A

Deficient Osteoclasts

= Decreased bone resorption

28
Q

Albers-Schonberg Disease is the Autosomal Dominant form of Osteopetrosis. What is its mutation and symptom severity?

A

MILD symptoms

– CLCN7 mutation

29
Q

The Autosomal Recessive forms of Osteopetrosis involve what possible mutations are symptom severity?

A

SEVERE symptoms

    • TCIRG1 mutations
    • Carbonic Anhydrase 2 mutations
30
Q

With Osteopetrosis, what changes are present with bones?

A 
LACK medullary cavity
Bulbous ends (look like erlenmeyer flasks)
31
Q

With Osteopetrosis, cranial nerves can be compressed due to deficient osteoclasts. What are some symptoms?

A

Deafness
Optic atrophy
Facial paralysis

32
Q

Besides the cranial nerve symptoms, what are the other symptoms seen with Osteopetrosis?

A

Fractures
Anemia
Leukopenia and infections

33
Q

With what disease do bones lack medullary cavities and have bulbous ends?

A

Osteopetrosis

34
Q

What is a group of developmental disorders due to defects in degradation of macromolcules?

A

Mucopolysaccharidoses - lysosomal storage diseases

35
Q

Where do Mucopolysaccharides accumulate?

A

In Chondrocytes and extracellular space

NMSP - Exam 2 (29 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions