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Basic Orthopaedic Sciences > Genetic Bone Disorders > Flashcards

Genetic Bone Disorders Flashcards

1
Q

What is DNA composed of?

A

Nitrogen
Phosphorous
Sugar

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2
Q

What are the 2 categories of bases?

A

Purines

Pyramidines

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3
Q

What are the nuleotide bases in DNA?

A

Adenine
Guanine
Cytosine
Thymine

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4
Q

What is a genome?

A

Pair of matched chromosomes

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5
Q

General inheritance pattern of a METABOLIC condition?

A

Recessive

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6
Q

General inheritance pattern of a STRUCTURAL CONDITION?

A

Dominant

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7
Q

What is aneuploidy?

A

Loss or gain of entire chromosome

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8
Q

Name the 4 cell cycles

A

G1 - Initial growth
S - DNA replication/synthesis
G2 - Gap
M - Mitosis

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9
Q

What type of inheritance pattern seen in single gene aberrations?

A

Mendelilan Inheritance

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10
Q

Autosomal dominant - how many children affected?

A

50% 2/4

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11
Q

Autosomal recessive - how many children affected>

A

25% 1/4

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12
Q

What is the ONLY X linked Dominant Ortho condition?

A

Hypophasphataemic Rickets

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13
Q

Name 3 X linked recessive Ortho conditions? XLR

A
  1. Duchenne’s
  2. Hemophilia
  3. SED Tarda

DHS

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14
Q

Name 4 autosomal dominant (AD) conditions?

A
  1. Achondroplasia
  2. OI
  3. NF
  4. Marfan Syndrome

MOAN

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15
Q

What mutation is responsible for achondroplasia?

A

FGF receptor 3

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16
Q

Most common orthopedic issues with Achondroplasia?

A

Spinal stenosis - lumbar and foramen magnum

17
Q

What it the pathophysiology behind Osteogenesis Imperfecta?

A

Defect in Type 1 collagen
COL1A1 COL1A2 genes - code for alpha chains 1 and 2 of collagen
Severity depends on amount of mutations and % of abnormal chains

18
Q

What is the main path in NF 1

A

Defect in Neurofibromin = tu supressor gene

19
Q

What are Mucopolysaccharidoses?

A

Group of 13 metabolic syndromes

Caused by malfunctioning/ absence of lysosomal enzymes - which breakdown GAG

20
Q

What are the manifestations of Mucopolysaccharidoses?

A

Dwarfism

Atlanto-occiptal instability

21
Q

What is the pathophysiology behind Duchennes?

A

Absence of dystrophin protein

Progressive replacement of muscle with fibrous/fatty tissue

22
Q

Orthopedic manifestations of Duchennes?

A

Calf pseudohypertrophy
Scoliosis
Equinovarus foot deformity
Joint contractures

23
Q

Difference between Duchenne’s and Beckers?

A

Beckers = decreased dystrophin protein instead of absent

24
Q

Hemophilia types and coagulation factor involved?

A

A - 8

B - 9

25
Q

What is Ehlers-Danlos syndrome?

A

Connective tissue disorder

Type V collagen

26
Q

What is Marfan Syndrome?

A

Connective tissue disorder

Fibrillin defect

27
Q

Ortho manifestations of NF

A

Scoliosis

Rib humps

28
Q

What is the classification system for OI + most common type?

A

Sillence

Type 1

Basic Orthopaedic Sciences (25 decks)

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