Embryo - Development of Skeletal System Flashcards

1
Q

Vertebrae form as _______ structures derived from adjacent _______.

A

intersegmental; sclerotomes

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2
Q

There are originally ___ cervical somites, but fusion results in __ cervical nerves

A

8 cervical somites; 7 cervical nerves

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3
Q

Cervical spinal nerves exit ______ (above/below) vertebra of same number, while other spinal nerves exit ______ (above/below).

A

Cervical nerves exit above

Other nerves exit below

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4
Q

_______ form neural arches surrounding the developing spinal cord

A

Sclerotomes

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5
Q

Congenital Scoliosis

A

Abnormal lateral curvature of the spine, resulting from disruption of normal vertebral development

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6
Q

Types of Congenital Scoliosis

A

A - failure of formation of vertebrae
B - failure of segmentation of vertebrae
C - mixed

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7
Q

Where do ribs arise from?

A

Zones of condensed mesenchyme lateral to the body of the vertebra
Develop from costal processes

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8
Q

The sternum develops from:

A

Cartilaginous sternal bars in ventral body wall

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9
Q

In what direction do the sternal bars fuse?

A

Cranial-caudal direction

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10
Q

Defects of the Sternum

A

Sternal Cleft
Pectus excavatum
Pectus Carinatum

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11
Q

Pectus Excavatum

A

Assumed to be caused by overgrowth of the costal cartilage. Costal cartilage overgrowth restricts the expansion of the ribs and pushes the sternum inward.

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12
Q

Pectus Carinatum

A

Overgrowth of cartilage causing sternum to protrude. May occur as solitary congenital abnormality or in association with other genetic disorders or syndromes. Can be evident at birth or in adolescent males during growth spurt (most common)

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13
Q

Sternal Foramen

A

Ossification anomaly found in 4-10% of population.
Can be mistaken for bullet wound or sternal disease by CT scan.
Common acupuncture point
Directly over heat

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14
Q

When does outgrowth of the body wall begin?

A

Late in week 4 of development, FL>HL

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15
Q

Positioning of the limbs along the craniocaudal axis is regulated by the ____ genes expressed along the axis

A

HOX genes

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16
Q

Once positioning along the craniocaudal axis is determined, limb growth must be regulated along the:

A

proximodistal, anteroposterior, dorsoventral axes

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17
Q

Limb outgrowth in the forelimb is initiated by:

A

TBX5 and FGF10

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18
Q

Limb outgrowth in the hindlimb is initiated by:

A

TBX4 and FGF10

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19
Q

Meromelia

A

Part of limb is missing

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20
Q

Amelia

A

All of limb is missing

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21
Q

Phocomelia

A

Feet and hands arise close to the trunk

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22
Q

Mesomelia

A

Shortened forearm or leg elements

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23
Q

Radial Club Hand

A

Congenital absence or hypoplasia of the radial structures of the forearm and hand
Hypoplastic or absent muscular structures and radial nerve
Treatment is best if early passive stretching exercises and corrective casting is started

24
Q

Once limb outgrowth is initiated, BMPs, expressed in ventral ectoderm, induce formation of the _____ _______ ______

A

Apical Ectodermal Ridge (AER)

25
Q

Apical Ectodermal Ridge (AER)

A

Thickened ectoderm on apex of limb bud
Directs limb bud organization along proximo-distal axis
Maintains dorsal/ventral axes

26
Q

After AER is established, it expresses _____ and _____, which maintain the progress zone.

A

FGF4 and FGF8

27
Q

Zone of Polarizing Activity (ZPA)

A

Mesodermal cells located at base of limb

28
Q

What does the ZPA produce?

A

Produces Retionic Acid which initiates expression of SHH

29
Q

The ZPA directs:

A
Organization of limb bud and pattering of digits
Determines anterior (preaxial/thumb), posterior (postaxial)
30
Q

Misexpression of retinoic acid and SHH results in:

A

A mirror image duplication of the limb structures

31
Q

Polydactyly

A

Extra digits
Commonly medial or lateral, rather than central
Dominant trait

32
Q

In what direction do limbs grow and develop?

A

Proximo-distally

33
Q

Progress Zone (PZ)

A

Where mitosis and limb lengthening occurs

34
Q

Zone of Cell Division (Progress Zone)

A

Region of actively dividing cells

35
Q

Zone of Differentiation

A

Region of cell specialization

36
Q

_____ genes regulate type/shape of bones

A

HOX

37
Q

AER secretes FGFs that influence the closest cells (progress zone) to develop into _____ structures. Cells no longer within range of AER remain _____ in nature.

A

Distal

Proximal

38
Q

Thalidomide

A

Disrupts signal from AER down to the progress zone
Cells in progress zone may divide a little or not at all
(Hansons disease)

39
Q

Syndactyly

A

Most common limb abnormality
Webbed fingers or toes
Failure of programmed apoptosis in digital ray
Simple dominant or simple recessive inheritance

40
Q

Where is syndactyly most frequent?

A

Between 3rd & 4th fingers and 2nd & 3rd toes

41
Q

Brachydactyly

A

Uncommon
Reduction in the length of phalanges
Inherited as dominant trait
Short stature

42
Q

Cleft hand or foot

A

Uncommon
Lobster-claw
Absence of one or more central digits or between digits 2 & 4
Cleft hand/foot is divided into 2 parts that oppose each other
Remaining digits are partly or completely fused

43
Q

Contribution of Lateral Plate Mesoderm to developing limb bud:

A

Skeleton and Vasculature

44
Q

Contribution of Hypaxial Mesoderm to developing limb bud:

A

Muscles

45
Q

Contribution of Neural Crest to developing limb bud:

A

Schwann cells

46
Q

Contribution of Neural Tube to developing limb bud:

A

Motor/Sensory axons (dermatome map)

47
Q

How do upper limbs rotate?

A

90 degrees laterally

48
Q

How do lower limbs rotate?

A

90 degrees medially

49
Q

Malformations

A

Overgrowth
Undergrowth
Focal Defects
Associated w/ other general/syndromic skeletal abnormalities

50
Q

Sirenomelia

A

“Mermaid Syndrome”
Different Classifications
Separation surgery possible in some cases

51
Q

Achondroplasia

A

Most prevalent form of dwarfism
Mutation on FGF-R3
Pathogenic changes at epiphyseal plate; zones of proliferation & hypertrophy are narrow and disorganized
Autosomal dominant

52
Q

Osteogenesis Imperfecta/Brittle Bone Disease

A

Bone fragility that predisposes to fractures and deformities related to connective tissue abnormalities (Collagen deformation)
Blue Sclera
Not always evident at birth

53
Q

Talipes equinovarus (Club Foot)

A

Most common type of club foot
The sole of the foot is tuned medially and the foot is inverted.
1/1000 births, two times more frequent in males

54
Q

Flexible Club Foot

A

Results from abnormal positioning or restricted movement of the lower limbs in utero.
Structurally normal feet
Usually correct themselves spontaneously

55
Q

Rigid Club Foot

A

Abnormal development of the ankle and foot joints during the 6th and 7th week
Bony deformities, particularly the talus