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MSKI Final Exam material > Dr. Cole's Development of the Skeletal System > Flashcards

Dr. Cole's Development of the Skeletal System Flashcards

1
Q

What are vertebrae derived from?

A

sclerotomes

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2
Q

Sclerotomes do what in the formation of vertebrae?

A

They split into caudal and cranial sections

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3
Q

What parts of the developing vertebrae fuse, and from what?

A

Sclerotomes divide into cranial and caudal parts, and the cranial parts fuse with the caudal part from the sclerotome adjacent to it.

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4
Q

During vertebrae development, what is happening with spinal nerves?

A

they are growing out between the newly forming vertebrae and merging with myotomes

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5
Q

Explain why there are 8 somites originally in the cervical region but only 7 cervical vertebrae

A

the sclerotomes divide and fuse: somite number 8 divides into the caudal portion of C7 and the cranial portion of T1, which means explains why.

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6
Q

How do cervical spinal nerves exit?

A

they exit above their respective vertebrae of the same number while the other spinal nerves exit below vertebrae

spinal nerve root C8 grows between C7 and T1, this explains the ratio of spinal nerves to vertebral segments

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7
Q

Sclerotomes form two things, and the notochord develops into something as well

A

Sclerotomes form neural arches around developing spinal cord and form the centrum as well
the notochord regresses and is incorporated into the intervertebral disc

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8
Q

Herniated intervertebral disc

A

the nucleus pulposeous herniates outward

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9
Q

Congenital scoliosis: 3 kinds

A

A) SEMISEGMENTED: failure of formation (there is a single wedge like vertebrae causing others to be decentered that did not form correctly)

B) BLOCK VERTEBRAE and UNSEGMENTED BAR: failure of segmentation

C) MIXED (unsegmented and semi-formed)

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10
Q

what is the “basic” cause of scoliosis?

A

abnormal formation of segmentation of somites

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11
Q

a treatment for scoliosis?

A

magnetic rods

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12
Q

Formation of ribs:

from where do they arise, and what region?

A

arise from zones of condensed mesenchyma lateral to the vertebra FROM costal processes

develop in thoracic region only

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13
Q

Development of Sternum:

develops from…
fuses how…
forms….

A

develops from cartilaginous sternal bars in ventral bony wall

fuses with one another in cranial caudal direction (top down)

forms the manubrium, body and xiphoid process

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14
Q

Pectus excavatum

A

costal cartilage overgrowth, which restricts expansion of the ribs and pushes sterum inward. largely males.

cause is truly unknown

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15
Q

Pectus carinatum

A

overgrowth of cartilage causing sternum to protrude

can be evident at birth, but mostly visible at adolescents

can occur solitary or in association with other genetic disorders

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16
Q

Sternal Foramen

A

Ossification anomaly found in 4-10% of population
CAN BE MISTAKEN FOR A BULLET HOLE!
Directly over heart
Common area for acupuncture

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17
Q

Appendicular skeleton development (general big picture things)

A

1) Hox gene expression
2) Inductive interactions between mesoderm and ectoderm
3) mechanical influences

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18
Q

Initiation of limb development occur what week, occurs along what axis, and is regulated by what genes?

A

4th wk, craniocaudal axis, Hox genes (overlapping patterns from head to tail

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19
Q

what axis is established first in limb development?

A

cranial-caudal

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20
Q

Cranialcaudal axis is established ____, growth is then regulated along the….axises

A

proximodistal, anteroposterior, dorsoventral axes

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21
Q

Forelimb outgrowth is initiated by

A

TBX5 and FGF10

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22
Q

Hindlimb outgrowth is initiated by

A

TBX4 and FGF10

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23
Q

TBX5, TBX4, and FGF10: which is hindlimb and which is forelimb

A

TBX5/FGF10 –> forelimb
TBX4/FGF10–> hindlimb

both development from lateral plate mesoderm

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24
Q

Holt Oram syndrome

A

mutation in the TBX5
important in development of both upper limbs and heart

upper limb abnormalities always present

abnormalities may be unilateral or bilateral and asymmetric

MOST PREVALENT FINDINGS ARE FUSED CARPALS or MALFORMATIONs of carpals

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25
Q

Holt Oram abnormalities may effect which bones of the upper limbs?

A

thenar, radial, ulnar bones

most prevalent findings are malformations or fusions of the carpal bones

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26
Q

Holt Oram:
meromelia
amelia
phocomelia

A

Meromelia: partial abnormality, some development
Amelia: total non-development (all limb is missing)
Phocomelia: feet an hands arise close to trunk

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27
Q

AER

A

Apical Ectodermal Ridge

thickening ectoderm on apex of limb bud

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28
Q

Formation of the AER

A

Once limb outgrowth is established, BMPs induce formation of aplical ectodermal ridge

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29
Q

Radical Fringe: location of expression and function

A

expressed in the dorsal half of limb ectoderm

restricts location of the AER to the distal top of the limbs

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30
Q

RF: expresses what and where

A

SER2 at border between cells between RF expressing cells and non-RF expressing cells

this is where AER is formed

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31
Q

Engrailed-1

A

represses expression of RF in ventral ectoderm cells

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32
Q

3 axes of limb development

A

Anterior-Post: Proximal-Distal: Dorsal-Ventral

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33
Q

When 3 axes are visible, what two areas control/regulate growth?

A

AER, ZPA, PZ

34
Q

PZ

A

progress zone where mitosis and limb lengthening occurs

35
Q

AER direct limb growth along

A

proximo-distal axis

36
Q

AER maintains

A

dorsal/ventral axis

37
Q

After AER is established, is expresses

A

FGF4 and FGF8

38
Q

What do FGF4 and FGF8 do?

A

maintains the progress zone, which are rapidly proliferating population of mesenchyme cells adjacent to the ridge

39
Q

FGF4/FGF8

A

maintains progress zone affects distal growth of the limb

40
Q

FGF4/8 leads to

A

distal growth of the limb bud

41
Q

ZPA

A

zone of polarizing activity

mesodermal cells located at base of the limb which produces retinoic acid which expresses Shh

42
Q

RA leads to expression of ___ in the ZPA

A

Shh

43
Q

ZPA directs

A

organization of limb bud and patterns of digits

44
Q

Misexpression of RA or Shh results in

A

miror image reduplication of the limb structures

45
Q

ZPA determines what?

A

Pre-axial/thumb and Posterior (postaxial)

46
Q

misexpression of RA and Shh cause what?

A

polydactyly and duplication of AER

47
Q

In Polydactyly, what is most commonly the case of the extra digit?

A

that it is located either medial or later
non-functional
in foot, usually lateral
dominant trait

48
Q

a limb grows

A

proximo-distally

49
Q

segmentation of the limb buds: what two zones are there

A

the Zone of Cell division (progress zone): region of actively dividing cells)
the Zone of Differentiation: region of cell specialization

50
Q

What is the relation of Hox genes to bones?

A

they regulate type and shape of bones

51
Q

AER secrete ____ that cells in the _____ to

A

FGFs, progress zone, distal structures

52
Q

What happens if a cell is not within range of the AER?

A

it remains proximal in nature

53
Q

Progress zone and FGF signaling and Thalidomide Phocomelia

A

FGF secreted by AER causes cells in PZ to proliferation; thalidomide disrupts this. So limb is developing but there is no growth. FGF re-specifies in PZ to become later and later distal components

54
Q

Digit formation

A

apoptosis of webbing cells allows for digits to develop

55
Q

syndactyly

A

failure of apoptosis, so digits are fused

56
Q

Where does cell death in digit formation occur?

A

in the AE: creates a separate ridge for each digit

57
Q

what is the most common limb abnormality?

A

syndactyly, most commonly between 3rd/4th finger and 2/3rd toes

simple dominant or simple recessive

58
Q

Brachydactyly

A

short digits

uncommon, reduction in the length of the phalanges
inherited as dominant trait
short stature

59
Q

Cleft hand/foot

A

uncommon, lobster claw

absence of one or more central digits or between fingers 2 & 4

60
Q

Lateral plate mesoderm =

A

skeleton and vasculature

61
Q

Hypaxial mesoderm =

A

muscles

62
Q

Neural crest -

A

Schwann cells

63
Q

Neural tube =

A

motor neurons/sensory axons (dermatome map)

64
Q

Developing Dorsal ramus ramify through

A

epimeres

65
Q

Developing ventral ramus ramify through

A

hypomeres

66
Q

brachial plexus processes ramify through two regions that are split by a third region: name them

A

posterior process –> posterior condensation
anterior process –> anterior condensation

divides by lateral plate mesoderm

67
Q

what degrees do the upper and lower limbs rotate?

A

90 degrees

some dorsal musculature lags behind and comes to lie on the anterior/pre-axial border (explains brachioradialis)

68
Q

Sirenomelia

A

“mermaid syndrome” legs are fused

69
Q

Congenital limb anomalies are mostly

A

of unknown etiology , probably multifactorial
between genetics and environment
complex interactive nature of limb development

70
Q

Separation Surgery of sirenomelia (4 steps)

A

1) legs are fused together by skin; feet splayed in V shape
2) saline sacks progressively inserted to stretch skin
3) two operations, 3 months apart, separate the legs then use the stretched skin to cover wounds
4) last operation will rotate splayed feet forward

71
Q

Achondroplasia

A

most prevalent form of dwarfism
mutation on FGF-R3
pathologic changes at epiphyseal plate; zones of proliferation and hypetrophy are narrow and disorganized

72
Q

Achondroplasia genetics and causes

A

autosomal dominant
failure of proliferation
failure of column formation of epiphyseal cartilage cells
impairment causes lack of tubular bones to grow

73
Q

Osteogenesis Imperfecta

A

also known as brittle bone disease

bone fragility that predisposes individual to deformities related to connective tissue abnormalities

blue sclera

not always evident at birth

74
Q

Talipes Equinovarus

A

Club foot
talipes equinovarus is the most common type of club foot

sole of foot is turned medially and foot is inverted

75
Q

Club foot

A

results from restricted movement of lower limbs in utero or abnormal position of fetus

76
Q

What do the feet look like in club foot?

A

normal, feet are normal appearing

77
Q

Feet are structurally ___ in club foot

A

normal

78
Q

Rigid club foot

A

abnormal development of the ankle and foot joints during 6th/7th week

79
Q

what bony deformity is particularly common in club foot?

A

talus

80
Q

Axial skeleton is formed from

A

sclerotomes of the somite

81
Q

appendicular skeleton is formed from

A

somatic lateral plate mesoderm

82
Q

limb musculature develops from

A

hypaxial mesoderm

MSKI Final Exam material (15 decks)

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