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MSK phys > Development of skeletal system > Flashcards

Development of skeletal system Flashcards

1
Q

supernumerary limb is termed

A

polymelia

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2
Q

scelrotome split into?

describe fusion process

A

cranial (rostral) and caudal sections;

caudal portion of one scelrotome fuses with cranial portion of sclerotome caudal to it

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3
Q

no. of cervical somites and no. of resultant vertebrae?

how does this impact cervical nerve route?

A

8 cervical somites fuse to form
7 vertebrae
each n. ABOVE its numbered vertebrae;
C7 n. goes above C7 vertebrae unitl C8 which goes over T1

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4
Q

thoracic nerves travel above or below the vertebrae of same name?

A

BELOW

T1 below T1 …

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5
Q

sceleretomes form?

A
  • neural arches surrounding developing spinal cord

- vertebral body (centrum)

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6
Q

notochord during skeleteogenesis..

A

regresses except where its incorporated into intervertebral discs as nucleus pulposus

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7
Q

abnormal lateral curvature of spine, resulting from disruption of normal vertebral development is termed

A

scoliosis

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8
Q

failure of formation of vertebrae leads to these kinds of scoliosis

A
  • semisegmented (chunks on either side)
  • fully segmented (chunk on one side)
  • wedge vertebrae (thin chunk going all the way through)
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9
Q

failure of somite (vertebral precursor) segmentation leads to these kinds of scoliosis

A
  • block vertebrae (joined straight up, no gaps between)

- unsegmented bar (two vertebrae joined a tone side, angling out)

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10
Q

failure of formation AND segmentation leads ot this kind of congenital scoliosis

A

unsegmented bar with hemivertebrae (vertebrae joined with wedge vertebrae in between)

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11
Q

“ribs” at non-lumbar regions

A

costal processes

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12
Q

cervical ribs can cause..

A

thoracic outlet syndrome!

- can close down, occlude thoracic opening, affect phrenic n., vagus n., carotid arteries..

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13
Q

parts of sternum

A
  • manubrium
  • body
  • xiphoid process
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14
Q

sternum develops from

A

cartilaginous sternal bars in ventral body wall

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15
Q

cartilaginous sternal bars in ventral body wall fuse with each other in this direction.. to form the sternum

A

cranial-caudal direction;

if don’t fuse at the end bit; get bifid xiphoid processes!

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16
Q

overgrowth of cartilage causing sternum to protrude known as..?
evident at..? Most common in..?

A

“bird chest”

  • pectus carinatum
  • evident at birth
  • most common in adolescent males during growth spurt
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17
Q

sternum sunken posteriorly known as..

A

pectus excavatum

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18
Q

disease mechanism of pectus excavatum and stats.

A
  • overgrowth of costal cartilage
  • restricts expansion of ribs
  • pushes sternum inward
    1 in 500-1000 children; 3x males
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19
Q

4-10% of the population has a hole in sternum known as..

A

sternal foramen

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20
Q

“crowding” with many fetuses in the uterus at once can lead to

A

club feet

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21
Q

limb development initiates as an outgrowth in body wall in week no. ? what develops first?

A

week 4!

FL ? HL

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22
Q

position of limbs along craniocaudal axis is regulated by

A

HOX genes!

expressed along craniocaudal axis; and have overlapping patterns

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23
Q

the axes involved in limb growth are

A
  • proximodistal
  • anteroposterior (preaxial/ postaxial; thumb is preaxial; pinky is postaxial with middle finger as midline of axis)
  • dorsoventral
24
Q

limb outrowth in FORELIMB iniated by these secreted by somatic lateral plate mesoderm cells

A

TBX5 and FGF10

remember TBX5 because you give high fives with your forelimb!!

25
Q

limb outrowth in HIND LIMB iniated by these secreted by somatic lateral plate mesoderm cells

A

TBX4 and FGF10

26
Q

feet and hands arising close to trunk called

A

phocomelia

(because of animals with flippers close to body

27
Q

carpal bones fused/ malformed
abnormality is unilateral (could’ve been bilateral) and asymetric; radial, carpal, thenar bones involved
what is it?
what gene effected?

A

Holt-Oram syndrome!
TBX5 TF mutation (important for upper limbs and heart devleopment)
- autosomal dominant
- upper limb abnormalities are always present!

28
Q

part of limb missing, called…

A

meromelia

29
Q

all of limb missing, called

A

amelia

30
Q

shortened forearm or leg elements termed

A

mesomelia!

humerus/ femur normal, it is FOREARM/ LEG effected

31
Q

radius and ulna markedly shortened at 20 week fetal sonograph, what does the baby have?

A

mesomelic dysplasia

32
Q

after initiation of limb growth by FGF10 and TBX5/4, BMPs (expressed in ventral ectoderm) induces formation of.. on the..during week ?.. of development in humans

A

Apical ectodermal ridge (AER)
tip of the Somatic Lateral Plate Mesoderm (SLPM)
week 5 in humans

33
Q

what induces SER2 production at AER tip? where is this structure located?

A

expression of RADICAL FRINGE (RF) in dorsal half of limb ectoderm

34
Q

what establishes the border between cells that are expressing RF and those that arent? where is it located?

A

engrailed-1 in ventral ectoderm cells!!

represses expression of radical fringe

35
Q

where is limb lengthening occuring the developing limb bud?

A

Progrezz Zone (PZ)

36
Q

limb tissue differentiation after SER-2 expression is controlled by 2 regions:

A

Apical Ectodermal Ridge (AER)

Zone of Polarizing Activity (ZPA)

37
Q

thickened ectoderm on apex of limb bud is called

A

AER

38
Q

how does AER relate to the axes in the devleoping limb bud?

A
  • directs limb bud organization along proximo-distal axis

- maintains dorsal/ ventral axis

39
Q

rapidly proliferating populaiton of mesenchyme cells adjacent to ridge is known as the

A

Progress zone!

40
Q

AER expreses what to maintain the progress zone?

A

FGFs (4 and 8)

41
Q

mesodermal cells located at base of limb bud

A

zone of polarizing activity (ZPA)

42
Q

misexpression of what causes mirror image duplicaiton of limb structures?

A

Retinoic acid/ Shh

produced by ZPA (RA which produces Shh) - directs organization of limb bud and patterning of digits

43
Q

extra digits termed

A

polydactyly/ supernumerary digits

44
Q

features of polydactyly

A
  • extra digit commonly medial or lateral (rather than central)
  • in a foot, the extra digit is usually lateral
  • Dominant trait!
  • (often extra digit incompletely formed/ useless)
45
Q

specification of foot and toes is completed by week ?

A

5!

so week 4-5 is window of time for limb deformities, maybe why occurrence is rare

46
Q

cells close to AER (able to receive secreted FGFs) in the PZ become…
cells no longer within range of AER become..

A

close to AER = distal!

no longer in range = remain proximal!

47
Q

in the 50s or 60s many pregnant women took morning sickness meds; their kids had abnormal limb development; what was the cause?condition called?

A

Thalidomide Phocomelia

48
Q

what is syndactyly? stats? type of inheritance?

A

most common limb anormality
webbed fingers or toes (can be fusion of bones as well)
failure of programmed apoptosis
most common between 3rd and 4th fingers and 2nd and 3rd toes
simple dominant or simple recessive inheritance

49
Q

brachydactyly? stats? type of inheritance?

A

short digits - reduction in length of phalanges

  • inherited as dominant trait
  • short stature
50
Q

cleft hand/ foot?

A
  • absence of one or more central digits between digits 2 and 4
  • “lobster- claw..”
  • uncommon
51
Q 
what are the following embryonic cells contributions to the developing limb bud?
lateral plate meso - 
hypaxial meso
nerual crest
neural tube
A

lateral plate meso - skeleton and vasculature
hypaxial meso - muscles
neural crest - schwann cells
neural tube - motor/ sensory axons (dermatome map)

52
Q

upper limb rotates…

lower limb rotates..

A

UL 90 degrees laterally

LL 90 degrees medially

53
Q

mermaid syndrome - when limbs fully formed but skin not separated is known as..

A

sirenomelia

54
Q

mutation on FGF-R3 leads to?? disease process? type of inheritance?

A

achondroplasia! most prevalent dwarfism

  • pathologic changes at epiphyseal plate; zones of proliferation and hypertrophy are narrow and disorganized
  • defec tin endochonral bone formation impairing longitudinal growth of tubular bones
  • autosomal dominant
55
Q

patient has som ebody deformities, history of fractures, his eyes are blue..

A

Osteogenesis imperfecta/ Brittle Bone Disease!

  • blue sclera the giveaway
  • connective tissue abnormalities
56
Q

club foot most common type? stats? description? types?

A

talipes equinovarus!

  • 1/1000 births; 2x more frequent in males
  • sole of foot turned medially and foot is inverted
  • club foot can be flexible or rigid - flexible from abnormal positioning/ restricted movmeent in utero, feet normal otherwise, spontaneously correct themselves
  • rigi devleopment of ankle and foot joint sin week 6 and 7 abnormal - bony deformities (talus esp.) - have device slowly rotate over 2-3 months on daily basis

MSK phys (7 decks)

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