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DMST 315 OBGYN 3 > Fetal Skeletal Dysplasias > Flashcards

Fetal Skeletal Dysplasias Flashcards

1
Q

Endochondral ossification begins at how many weeks?

A

10 menstrual weeks

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2
Q

What are the first bones to ossify? 5

A
  1. Mandible and maxilla
  2. Clavicle
  3. Calvarium
  4. All long bones
  5. Vertebral laminate
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3
Q

When does the mandible and maxilla finish ossifying?

A

8-19 menstrual weeks

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4
Q

Calvarium is finish ossification when?

A

12-13 weeks

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5
Q

All long bones finish ossification when?

A

End of the 1st trimester

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6
Q

Vertebral laminae finish ossification when?

A

18 weeks

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7
Q

What are some secondary ossification centres?

A

Epiphyses

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8
Q

Secondary ossification centres are separated from the shaft of the long bone by what?

A

A layer of cartilage

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9
Q

Secondary ossification centres develop when?

A

Late in pregnancy and in the neonatal period

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10
Q

What aids in the determination of fetal maturity?

A

Visual aids

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11
Q

When is the distal femur visible?

A

32-35 weeks

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12
Q

When is the distal humorous finished ossifying?

A

> 38 weeks

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13
Q

What might delay secondary ossification centres development?

A

IUGR

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14
Q

Femoral growth is 3mm/week until when?

A

27 weeks

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15
Q

Femoral growth is 1mm/week from when?

A

28 weeks to term

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16
Q

How do we measure the femur?

A

Only the shaft of the femur

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17
Q

Femur is measured as part of what?

A

Part of the anatomy scan and all biometry scans

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18
Q

What is the routine assessment for bones? 8

A
  1. Femur length
  2. Humerus length
  3. Lower limbs
  4. Upper limbs
  5. Foot/Ankle angles
  6. Feet palmer view
  7. Hands
  8. Spine and calvarium
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19
Q

What do we assess for in terms of ossification/ bones? 5

A
  1. Size
  2. Presence
  3. Shape
  4. Contour
  5. Density
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20
Q

What are 3 errors of morphogenetic?

A
  1. Malformation
  2. Deformation
  3. Disruption
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21
Q

What is malformation?

A

Abnormal formation of tissue (genetic and telegenic drugs)

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22
Q

What is deformation?

A

Normally developed, but abnormal force alters structure shape

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23
Q

What is an example of deformation? 2

A
  1. Oligohydraminos causing clubbed feet
  2. Features of potter’s sequence
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24
Q

What is disruption?

A

Normally developed, but abnormal interference causes tissue destruction

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25
Q

What are two examples of disruptions?

A
  1. Vascular occlusion = limb reduction
  2. Tearing amniotic membrane = Tissue destruction
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26
Q

What is skeletal dysplasia?

A

The abnormal development of the cartilaginous and osseous tissues, resulting in bones that appear shortened, thin, deformed or that fail to form at all.

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27
Q

What is another name of skeletal dysplasia?

A

Osteochondrodysplaisa

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28
Q

What are indications of skeletal dysplasia? 4

A
  1. Specific genetic risks (Previous pregnancy, family history)
  2. Apparent limb abnormality
  3. Associated abnormality
  4. Abnormal amniotic fluid
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29
Q

What does family history of skeletal dysplasia warrant?

A

Extensive screening of target areas

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30
Q

Extensive screening for skeletal dysplasia can help identify what?

A

The types of skeletal dysplasia as many disorders inherit as AR or AD

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31
Q

What is consanguinity?

A

Couples that are relatives

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32
Q

What presents from consanguinity?

A

AR traits more prevalent

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33
Q

What are four patterns of limb shortening?

A
  1. Rhizomelia
  2. Mesomeilia
  3. Mircomeilia
  4. Acromeilia
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34
Q

What is rhizomelia?

A

Proximal portion of limb is shortened (fever and humerus)

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35
Q

What is mesomelia?

A

Middle portion of limb is shortened (Radius/ ulna and tibia/fibula)

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36
Q

What is micromelia?

A

All portions of the limb are shortened

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37
Q

What is acromelia?

A

Distal portion of limb (hands/ feat)

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38
Q

What is phocomeilia? 2

A
  1. Abscesses of the proximal portion of the extremity
  2. Hands or feet attached to trunk of the body
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39
Q

What does phocomelia resemble ?

A

Presemnil flipper

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40
Q

Shortened long bones are routinely measured when?

A

FL and HL at detailed scan

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41
Q

What is the routine for measurements of FL and HL at detailed scan? 4

A
  1. Cross-reference to BPD/long bone chart
  2. Marker is <0.9 of expected)
  3. Or <5%
  4. 2 SD for fetal age
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42
Q

In terms of shortened long bones, once a skeletal abnormality is identified, what happens to the long bones.

A

Once a skeletal abnormalities is identified, all bones should be measured

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43
Q

What classifies as severely shortend long bones?

A

> 4 standard deviation

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44
Q

If the bones are -2-4 SD, what needs to be done?

A

F/U in 3-4 weeks to ensure normal growth

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45
Q

In terms of shortened bones, when can we expected normal lengths?

A
  1. Normal lengths early in 2nd trimester
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46
Q

Dysplasia’s that manifest later mean what?

A

Less severe features that have a better prognosis

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47
Q

What is another name for sporadic dominant?

A

AR inherithence pattern

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48
Q

What are some common lethal skeletal dysplasia? 3

A
  1. Thanathorphic dysplasia a
  2. Achonoderognesis
  3. Osteogenesis imperfects II
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49
Q

What are some rare lethal skeletal dysplasias? 3

A
  1. Congenital hypophophastasia
  2. Camptomelic dysplasia
  3. Homozygous achondroplasia
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50
Q

There are how many different types of skeletal dysplasia

A

436

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51
Q

What does this image represent?

A

Patterns of limb shortening

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52
Q

What does this image represent?

A

Phocomelia

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53
Q

What are some common lethal dysplasia’s? 3

A
  1. Thanatophoric dysplasia
  2. Achondrogenesis
  3. Osteogenesis imperfects
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54
Q

60% of common lethal dysplasia’s are what? 2

A
  1. Thanatophoric
  2. Achondrogenesis
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55
Q

Dysplasia’s are considered lethal with what? 2

A
  1. Decreased thoracic circumference
  2. Severe micromelia
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56
Q

What does decreased thoracic circumference do with lethality?

A

It causes pulmonary hypoplasia

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57
Q

What do we need to determine thoracic circumference and lethality? 2

A
  1. Compare chest and abdomen
  2. Compare femur length and abdomen
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58
Q

What is abnormal narrow chest ratios? 2

A
  1. Chest/ Abdoment ratio <0.79
  2. FL/AC <0.6
    Indicative of hyperplasticity thorax
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59
Q

Thanatophoric means what in Greek?

A

Death bearing

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60
Q

What is the most common lethal skeletal dysplasia?

A

Thanatophoric dysplasia

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61
Q

Thanatophoric dysplasia is believed to be autosomal what? Why?

A

Dominant, because it is caused by mutations of the FGFR3 gene

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62
Q

What is the FGFR3 gene?

A

Fibroblast growth factor receptor

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63
Q

In terms of Thanatophoric dysplasia, around 50% present how?

A

Clinically as large for gestational age (LGA) due to polyhydraminos

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64
Q

What are some general abnormalities of Thanatophoric dysplasia? 7

A
  1. Micromelia
  2. Redundant skin folds
  3. Clover leaf skull deformity (Kleeblattschadel)
  4. Frontal bossing
  5. Bowed limbs (Telephone receiver)
  6. Narrow thorax
  7. Platyspondyly
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65
Q

What is Platyspondyly? 2

A
  1. Flatness of the vertebral bodies
  2. Thin vertebrae bodies
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66
Q

What is seen with TD type 1? 4

A
  1. Extreme rhizomelia
  2. Bowed bones
  3. Platyspondyly
  4. Frontal bossing
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67
Q

What is seen with TD type 2? 3

A
  1. Straighter long bones
  2. Taller vertebral bodies
  3. Kleeblattschadel
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68
Q

Between TD Type 1 and 2 which is more common?

A

Type 1

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69
Q

If the vertebral bodies appear flattened or less than the intervertebral space, what has happened?

A

Platyspondyly

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70
Q

How do we find the expected FL?

A

Check the BPD to the expected FL

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71
Q

What is the second most common lethal skeletal dysplasia?

A

Achondrogenesis

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72
Q

What is Achondrogenesis?

A

Decreased mineralization

73
Q

How many variations of Achondrogenesis are there?

A

There are 2.
Type 1 and 2

74
Q

What is the occurrence rate of type 1 Achondrogenesis?

A

20%

75
Q

What is the most severe form of Achondrogenesis?

A

Type 1

76
Q

Type 1 Achondrogenesis is autosomal what?

A

Recessive

77
Q

What are type 1 Achondrogenesis s/s? 2

A
  1. Abnormal cranial and spinal ossification
  2. RIb fractions
78
Q

What is the occurrence rate of type 2 Achondrogenesis?

A

80%

79
Q

What is the severity of Achondrogenesis type 2?

A

Less severe then 1

80
Q

Achondrogenesis type 2 is autosomal what?

A

Dominant

81
Q

What do we see with type 2 Achondrogenesis? 4

A
  1. Abnormal spinal ossifications
  2. Normal cranium
  3. No rib fractures
  4. Less severe mineralization abnormalities
82
Q

What are some sonographic features of Achondrogenesis? 6

A
  1. Micromelia
  2. Frontal Bossing and macro Tania
  3. Small thorax
  4. Decrease mineralization of bones
  5. Fractures and bowing of limbs
  6. May exhibit hydrops
83
Q

What is the chest appearance on U/S with Achondrogenesis?

A

Small thoracic circumference

84
Q

Osteogenesis imperfecta is Autosomal dominant or recessive?

A

Either or depending on the type

85
Q

What is osteogenesis imperfecta?

A

Defective collagen quality or quantity

86
Q

In terms of osteogenesis imperfecta, what does defective collagen quality or quantity lead to? 2

A
  1. Leads to decreased mineralization of bone and bone fragility
  2. Results in “Brittle bones”
87
Q

What are the different types of osteogenesis imperfecta?

A

Type 1-4

88
Q

Which forms of Osteogensis imperfecta are lethal or most severe?

A

Type 2

89
Q

Which forms of osteogensis imperfecta are mild or non-lethal?

A

Types 1, 3, and 4

90
Q

What are some S/S with Type 2 osteogenesis Imperfecta? 5

A
  1. Severe Micromelia
  2. Apparent thickening along the bones from increased calluses, from the fractures
  3. Hypomineralization of bones
  4. Rib fracture (Collapsed thoracic cage)
  5. Platyspondyly
91
Q

What are three types of lethal skeletal dysplasia? 3

A
  1. Congenital hypophosphatasia
  2. Comptomelic dysplasia
  3. Homozygous achondroplasia
92
Q

In terms of Congential hypophosphatasia, it is autosomal what/

A

Recessive

93
Q

What is congenital hypophosphatasia?

A

Abnormal bone mineralization (alkaline phosphatase deficiency)

94
Q

What are some features of congenital hypophosphatasia? 4

A
  1. Variable micromelia
  2. Diffuse hypomineraliztion
  3. Bones are thinned, delicate or absent
  4. +/- fractures
95
Q

What can congenital hypophosphatasia represent if severe?

A

OI type 2 if severe

96
Q

What is comptomelic dysplasia also known as?

A

Bent bone dysplasia

97
Q

What are some features of comptomelic dysplasia? 5

A
  1. Bowing of most long bones
  2. No fractures
  3. Severe talipes equinovarus (club feet)
  4. Absent/ hypoplastic scapulas
  5. Narrow thorax
98
Q

What must happen for the baby to have homozygous achondroplasia?

A

One parent must be affected but usually its both parents.

99
Q

What are some features seen with Homozygous achondroplasia? 3

A
  1. Rhizomelia
  2. Small Thorax
  3. Large cranium
100
Q

What are three non-lethal skeletal abnormalities?

A
  1. Heterozygous achondroplasia
  2. Asphyxiating thoracic dysplasia
  3. Ellis-van crevled syndrome
101
Q

What is the most common non lethal dysplasia?

A

Heterozygous achondroplasia

102
Q

What kind of new mutation can heterozygous achondroplasia be?

A

Autosomal dominant

103
Q

Is there any decrease in lifespan and intellect of heterozygous achondroplasia?

A

Normal life and intellect

104
Q

What are some features of heterozygous achondroplasia? 5

A
  1. Moderate rhizomelia - late onset
  2. Noticed in 3rd trimester (femurs)
  3. Large calvarium
  4. Frontal bossing
  5. normal thorax
105
Q

What is asphyxiating thoracic dysplasia also known as?

A

Jeune syndrome

106
Q

What are some S/S of asphyxiating thoracic dysplasia? 3

A
  1. Thorax long and narrow
  2. Polydactyly
  3. Pelvic/ Renal anomalies
107
Q

What are some treatments of asphyxiating thoracic dysplasia?

A

Undergo corrective surgery for thoracic expansion

108
Q

What is Ellis-van creveld syndrome also known as?

A

Chondroectodermal dysplasia

109
Q

How common is Ellis-van creveld syndrome?

A

Rare

110
Q

Ellis-van creveld syndrome is autosomal what?

A

Recessive

111
Q

Where is Ellis-Van Creveld syndrome found?

A

Frequently found in small communities where consanguineous couples may be common

112
Q

What are some things seen with Ellis-Van Creveld syndrome? 7

A
  1. Short limbs
  2. Short ribs
  3. Narrow thorax
  4. Polydactyly
  5. Dysplastic nails and teeth
  6. Upper lip abnormalities
  7. Congenital heart disease
113
Q

Aase syndrome is autosomal what?

A

Recessive

114
Q

What is Aase syndrome?

A

Underdevelopment of bone marrow causing anemia

115
Q

What are s/s of Aase syndrome? 5

A
  1. Congenital limb contractures
  2. Cleft palate
  3. Ear deformities s
  4. Droopy eyelids
  5. Triphalangeal thumb
116
Q

What happens to severe cases of Aase syndrome?

A

Severe cases are mostly stillborn or die early in life

117
Q

Holt- Oram syndrome is autosomal what?

A

Dominant

118
Q

What kind of s/s are seen what Holt-Oram syndrome? 2

A
  1. Skeletal and cardiac abnormalities
  2. Skeletal (radial ray etc.)
119
Q

In terms of Holt-Oram syndrome, cardiac defects determine what?

A

The severity of the outcome

120
Q

What does TAR syndrome stand for?

A

Thrombocytopenia- absent radius syndrome

121
Q

TAR syndrome is autosomal what?

A

Recessive

122
Q

TAR syndrome has what deficiencies? 2

A
  1. Decreased platelets
  2. Bilateral absent radii
123
Q

What is the prognosis of TAR syndromes?

A

Poor due to intracranial hemorrhage

124
Q

What is Radial ray syndrome?

A
  1. Absent or hypoplastic radius
  2. Radial deviation of hand and absent hypoplastic thumb
125
Q

What are some anomalies that we can see radial ray with? 5

A
  1. T18
  2. Holt- Oram syndrome
  3. Roberts syndrome
  4. VACTERL
  5. TAR syndrome
126
Q

What is Talopes equinovarus?

A

Medial deviation and inversion of the sole of the foot

127
Q

What is Talipes equinovarus known as?

A

Club foot

128
Q

What is talipes equinovarus caused by? 4

A
  1. Chromosomal
  2. NTD
  3. Skeletal dysplasia’s
  4. Decreased fluid
129
Q

What is an rocker bottom foot?

A

Prominent heel with absent arch (convex sole) due to large calcaneus

130
Q

What are some focal limb abnormalities? 7

A
  1. Polydactyly
  2. Olgiodactyly
  3. Syndactyly
  4. Brachydactyly
  5. Clinodactyly
  6. Hitchhikers thumb
  7. Talipomanus (club hand)
131
Q

What is Preaxial Polydactyly?

A

Focal limb abnormalities locales on the radial or tibial side

132
Q

What is post axial Polydactyly?

A

If the extra digits are on the ulnar or fibulae side

133
Q

What is brachydactyly?

A

Marked shortening of the hand digits with trident (pitch fork) configuration in homozygous achondroplasia

134
Q

What is talipomanus?

A

Club hand

135
Q

What does Amelia mean?

A

Absence of one or more limbs

136
Q

What does hemimelia mean?

A

Absence of one or more extremities below the elbow or knee

137
Q

What does ascheria mean?

A

Absence of one or more hands

138
Q

What does aporia mean?

A

Absence of one or more feet

139
Q

What is adactyly?

A

Absence of one or more digits from the hands or feet

140
Q

What is meromelia?

A

Absence of part of a limb

141
Q

What is ectrodactyly?

A

Split hand or split foot (Lobster claw)

142
Q

Amniotic band syndrome results from what?

A

1st trimester rupture of amnion

143
Q

Amniotic bands extends from where?

A

Chorionic surface to fetal tissue

144
Q

What does Amniotic band syndrome result in? 3

A
  1. Limb constriction
  2. Clefting
  3. Amputation
145
Q

What is contracture?

A

Shortening/tightening of muscles and tendons that cause joints to shorten and stiffen

146
Q

What is arthrogryoposis?

A

Joint contracture in two or more different areas of the body

147
Q

Contracture is usually caused by what?

A

Reduced fetal movements

148
Q

What are 5 various causes of contracture?

A
  1. CNS abnormalities
  2. Genetic syndromes
  3. Fetal environment
  4. Skeletal dysplasia
  5. Maternal infections
149
Q

What do we assess for dysplasia? 10

A
  1. Length of all long bones
  2. Shape, contour, and density of all bones
  3. Spine (curvature and density)
  4. Skull
  5. Face
  6. Head size, shape, and ventricle
  7. Thoracic circumference and shape are well as cardiac circumference
  8. Hands and feet
  9. Skin folds, thickness
  10. Amniotic fluid
150
Q

What is useful to assess bone density, mineralization and vertebral bod shape

A

Radiograph

151
Q

Why do we measure the foot length?

A

The fetal foot will be a more accurate measurement for gestation age in the case of a skeletal dysplasia

152
Q

Some skeletal dysplasia’s do not impair the growth of what?

A

The fetal feet

153
Q

A comparison of the what can assist in the diagnosis of a skeletal dysplasia

A

Long bones to fetal feet

154
Q

Careful assessment of skeletal dysplasias enables what? 2

A
  1. Accurate assessment of prognosis in 85% of dwarfism
  2. Enable accurate diagnosis of a specific skeletal dysplasia in about 50% of cases
155
Q

If the thorax is abnormally small what is the prognosis?

A

Poor

156
Q

What re 5 abnormalities that will be seen with small thorax?

A
  1. Thanatophoric dysplasia
  2. Achondrogenesis
  3. Osteogenesis imperfecta
  4. Congenital hypophosphatasia
  5. Camptomelic dysplasia
157
Q

What is more important than determining the specific dysplasia?

A

Determining lethal vs non- lethal disease

158
Q

Increase risk of lethal dysplasia if we see what? 5

A
  1. Severe micromelia (>4 SD below mean)
  2. Decrease thorax <5th percentile
  3. Decreased bone density
  4. Long bone fractures
  5. Kleeblattschadel
159
Q

What does this image represent?

A
  1. normal
  2. Rhizomelic
  3. Mesomelic
  4. Severe micromelic
160
Q

What does this image represent?

A

Phocomelia

161
Q

What does this image represent?

A

Narrow chest

162
Q

What does this image represent?

A

Front bossing and Kleeblattschadel

163
Q

What does this image represent?

A

Craniosynotosis Kleeblattschadel

164
Q

What does this image represent?

A

Normal vs Platspondyly

165
Q

What does this image represent?

A

Platyspondyly

166
Q

What does this image represent?

A

Frontal bossing

167
Q

What does this image represent?

A

Achondrogenesis

168
Q

What does this image represent?

A

Decreased mineralization

169
Q

What does this image represent?

A

Camptomelic Dysplasia

170
Q

What does this image represent?

A

Short ribs

171
Q

What does this image represent?

A

Radial ray

172
Q

What does this image represent?

A

Talipes equinovarus

173
Q

What does this image represent?

A

Talipes equinovarus

174
Q

What does this image represent?

A

Rocker bottom feet

175
Q

What does this image represent?

A
  1. Missing middle finger
  2. Fused fingers
176
Q

What does this image represent?

A

Polydactyly feet or hand s

177
Q

What’s happening here ?

A

Talipomanus (Club hand)

178
Q

What does this image represent?

A

Amniotic band syndrome

DMST 315 OBGYN 3 (21 decks)

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