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1
Q

What is the initial progenitor tissue of all musculoskeletal tissues?

A

mesenchyme (STFM)

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2
Q

The STFM that eventually forms the vertebrae and ribs is derived from which precursor mesenchyme?

A

Scleratome tissue of the somites

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3
Q

The STFM that eventually forms the sternum is derived from which precursor mesenchyme?

A

Somatic mesoderm of the ventral body wall

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4
Q

The appendicular skeleton is derived from____?

A

somatic mesoderm

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5
Q

When they receive inductive signals, what does skeletal precursor mesenchyme change into?

A

Preskeletal mesenchyme condensations (inductive signals are often from the adjacent epithelium

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6
Q

What is the bone master gene?

A

RunX-2

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7
Q

What is the cartilage master gene?

A

Sox9

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8
Q

During endrochondral ossification, what TXF stimulates cells of the perichondrium to express Runx2 and differentiate into OBs?

A

Ihh (Indian hedgehog)

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9
Q

During endochondral ossification, some chondrocytes hypertrophy and express what?

A

Type X collagne and VEGF

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10
Q

Runx2 is also know as?

A

CBFA-1

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11
Q

a cell that expresses Runx2 will become an ______?

A

Osteoblast

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12
Q

a cell that expresses Sox-9 will become a _______?

A

Chondroblast

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13
Q

the amount of epiphyseal cartilage retained in the skeleton is the _________.

A

Bone age

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14
Q

a radiologist determines bone ate by what two criteria?

A
  1. appearance of calcified material in the diaphysis and/or epiphysis for each bone and sex
  2. the disappearance of the dark line representing the epiphyseal cartilage plate indicates that teh epiphysis is closed (usually R hand and wrist are used)
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15
Q

Achondroplasia is d/t ?

A

mut in the FGF-R3 gene that affects cartilage formation

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16
Q

characteristics of an achondroplastic dwarf

A 
shortened skull base
shortened limbs
lordosis
normal trunk size
normal mental status
generally no skeletal or ear anomalies
new mutation or AD
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17
Q

Pituitary dwarfism is d/t

A

interrupted bone growth d/t insufficient production of GH

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18
Q

cretinism is associated with

A

advanced paternal age

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19
Q

cretinism is d/t

A

deficiency of thyroid hormone

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20
Q

in which type of dwarfism is the skeletal age less than the actual age?

A

cretinism

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21
Q

How does mucopolysaccharidoses affect skeletal development?

A

LSD&raquo_space; no degradation of proteoglycans
» distortion of face and skull
» ocular and CNS anomalies as well

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22
Q

osteogenesis imperfecta is d/t

A

defect in type I collagen

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23
Q

how does osteogenesis imperfecta present?

A 
blue sclera
brittle bones, many fractures
hearing loss
growth restriction
kyphosis
macorcephaly
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24
Q

How does the sclerotome form?

A

during somite differentiation, the neural tube and notochord produce Shh (and others), which induces the ventral half of the somite to undergo EMT (sclerotome includes the somitocoel cells)

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25
What does the sclerotome become?
migrate medially to become the vertebral column and ribs
26
describe the cranial-caudal compartmentalization of the sclerotome
Resegmentation: cranial = loose caudal = dense divide and fuse, causing muscles to span two vertebrae and spinal nerves to grow across the interface
27
which sclerotome compartment becomes the vertebral body?
ventral
28
which sclerotome compartment becomes the neural arch and spinous process?
dorsal
29
which sclerotome compartment becomes the distal rib?
lateral
30
which sclerotome compartment becomes the pedicle and proximal rib?
central
31
what part of the sclerotome becomes the IV disc, vertebral joints and proximal rib?
somitocoel cells
32
What structures allow a vertebra to grow?
a piece of cartilage remains between each neural arch and centrum (NEUROCENTRAL JUNCTION), allowing for longitudinal growth
33
what controls axial patterning of the vertebrae?
differential expression of Hox genes along the axis of the embryo >> cranial-caudal patterning Also, signals from the notochord and spinal ganglia control dorsal-ventral patterning
34
characteristics of Klippel Feil sequence
short neck, low hair line, restricted back movements number of cervical vertebrae is less than normal many other defects: undescended scapula, cervical rib, scoliosis, UG, CNS, cardiopulmonary, hand, and hearing
35
Klippel Feil is d/t
defect in Hox gene expression d/t abnormal retionic acid expression
36
describe spina bifida
failure of fusion of the halves of the vertebral arch
37
hemivertebrae
results from failure of one of the chondrification centers of the centrum to form results in wedge shaped vertebrae >> scoliosis
38
term used when many vertebrae have unfused spinous processes
rachischisis
39
sternal clefts are d/t
abnormal fusion of the sternal bars in the midline > convex = precuts excavate > concave = precuts cranium
40
skeletal muscle is derived from
paraxial mesoderm >> myotome tissue of the somites
41
visceral smooth muscle is derived from
splanchnic mesoderm
42
vascular smooth muscle is derived from
local mesoderm and neural crest ectomesenchyme
43
cardiac muscle is derived from
splanchnic mesoderm of heart fields
44
describe the formation of the dermomyotome
under the influence of Wnt from the surface ectoderm, the dorsal half of the somite remains an epithelium and is call the DM
45
Wnt and Shh influence the cells of the medial DM to do what? | what happens to the lateral cells?
EMT and migrate beneath the remaining epithelial cells of the DM The lateral DM is influenced by bmp, undergoes EMT as well and migrates underneath the DM epithelium all these mesenchymal cells become myogenic cells
46
what do myogenic cells express?
Myogenic regulatory factors Myf5 and MyoD
47
what is the lateral somite frontier?
between the paraxial and lateral mesoderms > an interface created by the opposing gradients of signaling molecules from the lateral mesoderm and the dorsal neural tube
48
what is on either side of lateral somite frontier?
``` medial = primaxial domaine >> intrinsic back muscles latera = abaxial domaine >> adominals, intercostals, distal limb muscles, all LL muscles ```
49
once myogenic cells proliferate and migrate, they are called _____ and are post-mitotic
myoblasts
50
myoblasts fuse and become _______
multinucleated myotubes, which further differentiate into primary muscle fibers
51
describe secondary muscle fibers
form later in development and are external to primary fibers. some suggest these become fast fibers (primary are slow fibers)
52
epaxial muscles are innervated by which primary rami
dorsal
53
hypaxial muscles are innervated by which primary rami
ventral
54
what is a body wall segment?
section of embryo representing a spinal cord level (skin, muscle, nerve pair
55
when does the coordination of innervating body wall segments occur?
embryonic period, early in prenatal development
56
a defect in the SCM muscle causes what?
congenital torticollis
57
what is prune belly syndrome
absent abdominal wall muscles | > often associated with bladder anomalies and UT obstruction
58
what is poland sequence
absence of pec major and minor
59
expression of what localizes limb fields at distinct axial levels?
Hox genes
60
What specific TXF is expressed within the UL
Tbx5
61
intermediate mesoderm sends signals and in appropriate areas, the lateral plate mesoderm expresses what to induce limb bud outgrowth
FGF 10
62
somatic mesoderm forms...
skeletal elements fibrous CT dermis
63
somitic mesoderm forms
skeletal muscle
64
muscles and nerves are organized in compartments along a ______________ axis
dorsal-ventral
65
digits are arranged along a _____________ axis
AP
66
which growth factor causes the distal limb ectoderm to turn into the AER?
FGF 8, stimulated by FGF 10
67
the AER secretes FGF-8 to keep a pool of undifferentiated mesenchyme available for limb elongation. What does this mesenchyme secrete to maintain the AER?
FGF-10 (positive feedback loop)
68
what does the ZPA secrete?
Shh
69
What does Shh from the ZPA do?
initiates expression of a Hox gene subset in an overlapping nested fashion responsible for digit formation
70
what is the role of apoptosis in limb development?
digit separation
71
by week ____ the limbs have rotated
8
72
what is the frequency of limb anomalies?
2/1000 live births
73
when is limb development most sensitive to teratogens?
4th to 9th weeks
74
what is the difference between a defect and a deformity
``` defect = abnormal development >> morphological abnormality deformation = abnormal form, shape or position of a normally formed body part CAUSED BY MECHANICAL FORCES DURING DEVO ```
75
term for absence of an entire limb
amelia
76
term for absence of part of a limb
meromelia
77
oligodactyly
LONGITUDINAL failure of limb formation in which median digits are missing >> lobster claw
78
phocomelia
LONGITUDINAL failure of limb formation where the most distal limb segments are attached directly to the limb girdle
79
syndactyly
failure of differentiation/separation of digits
80
Sirenomelia
fusion of lower limbs
81
what is the major developmental problem involved in clubfoot?
defect involving the talas bone
82
is clubfoot more common in M or F?
M
83
cause of developmental hip dysplasia?
insufficiently formed hip joint
84
sprengel deformity?
undescended scapula at C4-T2 (normally T2-T7) | 3x > M
85
Cleidocranial dysplasia
``` Defect in RunX-2 variety of anomalies: hypoplasia/aplasia of clavicles large head small face long neck short narrow chest ```

MSS (7 decks)

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