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Ob/Gyne 3 > Module 7 : Skeletal Dysplasia > Flashcards

Module 7 : Skeletal Dysplasia Flashcards

1
Q

when does endochondral ossification begin in the fetus

A
  • 10 menstrual weeks
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2
Q

what are the first bones that begin to ossify

A
  • mandible and maxilla @ 8-10 weeks
  • ## then calvicle
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3
Q

what is the secondary epiphyseal ossification centre of

A
  • distal femur

- distal humerus

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4
Q

what is the growth rate of the femur until 27 weeks

A
  • 3mm/week
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5
Q

what is the growth rate of the femur from 28 weeks to term

A
  • 1mm/week
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6
Q

what are 4 indications for skeletal dysplasia

A
  • specific genetic risk
  • apparent limb abnormality
  • associated abnormality
  • abnormal amniotic fluid level
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7
Q

what are the 3 errors of morphogenesis

A
  • malformation
  • deformation
  • disruption
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8
Q

what is malformation and what are the 2 causes

A
  • abnormal formation of tissue

- genetic, teratogenic

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9
Q

what is deformation and what is the cause

A
  • normally developed but abnormal force alters structure or shape
  • oligo
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10
Q

what is disruption and what are the 2 causes

A
  • normally developed but abnormal interference causes tissue destruction
  • vascular occlusion = limb reduction
  • tering amniotic membrane = tissue destruction
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11
Q

what are 4 different patterns of shortening

A
  • rhizomelia
  • mesomelia
  • micromelia
  • acromelia
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12
Q

what is rhizomelia

A
  • proximal portion of limb is shortened

- femur and humerus

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13
Q

what is mesomelia

A
  • middle portion of the limb is shortened

- radia/ulna and tib/fib

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14
Q

what is micromelia

A
  • all portions of limb shortened
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15
Q

what is acromelia

A
  • distal portion of limb shortened

- hands and feet

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16
Q

what is phocomelia

A
  • absence of the proximal portion of the extremity

- hands or feet attached to the trunk of the body

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17
Q

how many standard deviations below normal should we follow up

A
  • 2-4SD
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18
Q

do normal length s in the 2nd trimester exclude dwarf syndrome

A
  • no
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19
Q

what the the normal femur length/abdominal circumference

A

< 0.16

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20
Q

what should the femur measure at 18 weeks

A
  • 2.5cm
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21
Q

what are three common lethal skeletal dysplasia

A
  • thanatophoric dysplasia
  • achondrogenesis
  • osteogenesis imperfecta II
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22
Q

what are 3 rare lethal skeletal dysplasia

A
  • congenital hypophospatasia
  • camptomelic dysplasia
  • homozygous achondroplasia
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23
Q

when are skeletal dysplasia considered lethal

A
  • severe micromelia (all bones shortened)

- decrease thoracic circumference (pulmonary hypoplasia)

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24
Q

what are 2 factors that warrant extensive screening of targeted areas

A
  • family history

- consanguinity (couples that are relatives)

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25
Q

what is the most common skeletal dysplasia

A
  • thantophoric dysplasia
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26
Q

what do most fetus present with when having Thanato dysplasia

A
  • LGA due to poly
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27
Q

what mutation causes Thanato dysplasia

A
  • mutation of FGR3
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28
Q

what are the general abnormalities of Thanato dysplasia

A
  • MICROMELIA
  • CLOVER LEAF SKULL (KLEEBLATTSCHADEL)
  • NARROW THORAX
  • PLATYSPONDYLY ( flatness of vertebral body)
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29
Q

which type of TD is most common

A
  • type 1
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30
Q

what are the characteristics of TD type 1

A
  • extreme rhizomelia
  • bowed bones
  • normal trunk length
  • platyspondyly
  • frontal bossing
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31
Q

what are the characteristics of TD type 2

A
  • straighter long bones
  • taller vertebral bodies
  • KLEEBLATTSHADEL
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32
Q

what criteria determines if platyspondyly is present

A
  • vertebral bodies are smaller or equal to the intervertebral space
33
Q

what is the second most common lethal dwarfism

A
  • achondrogenesis
34
Q

what is achondrogenesis caused by

A
  • decreased mineralization
  • autosomal recessive
  • parents often relative
35
Q

which type fo achondrogenesis is more severe and less common

A
  • Type 1

- abnormal cranial and spinal ossification

36
Q

what is the less severe more common type of achondrogenesis

A
  • type II
  • abnormal vertebral body ossifications
  • normal cranium
37
Q

what are the sonographic features of achondrogenesis

A
  • MICROMELIA
  • SMALL THORAX
  • DECREASES MINERALIZATION OF BONES
  • FRACTURES AND BOWING OF LIMBS
  • MAY HAVE SEVERE HYDROPS
38
Q

what is osteogenesis imperfecta

A
  • autosomal dominant or recessive

- defective collagen

39
Q

what are the types of osteogenesis imperfecta and which ones are lethal

A
  • lethal = type IIA

- mild = type I, II, IV

40
Q

what are the characteristics of osteogenesis imperfecta type IIA

A
  • severe micromelia
  • thickeneing along bones from fractures
  • accordion bones
  • hypo mineralization of bone
  • rib fractures
  • platyspondyly
41
Q

what is congenital hypophosphatasia

A
  • autosomal recessive disease

- abnormal bone mineralization

42
Q

what are 4 features of congenital hypophosphatasia

A
  • variable micromelia
  • diffuse hypomineralization
  • bones are thinned, delicate, or absent
  • +/- fractures
43
Q

what is another name for camptomelic dysplasia

A
  • bent bone dysplasia
44
Q

what are 4 common features of camptomelic dysplasia

A
  • bowing of most long bones
  • severe talipes equinovarus
  • absent/hypoplastic fibulae
  • narrow thorax
45
Q

what must occur for homozygous achondroplasia to happen

A
  • one parent must be affected but usually its both parents
46
Q

what are the characteristics of homozygous achondroplasia

A
  • rhizomelia
  • small thorax
  • large cranium
47
Q

what are 3 non lethal skeletal abnormalities

A
  • heterozygous achondroplasia
  • asphyxiating thoracic dysplasia
  • dystrophic dysplasia
48
Q

what are the features of heterozygous achondroplasia

A
  • MODERATE RHIZOMELIA
  • NOTICED 3RD TRI
  • NORMAL THORAX
  • large calvarium
  • frontal bossing
49
Q

what is the most common non lethal dysplasia

A
  • heterozygous achondroplasia
50
Q

what are the features of asphyxiating thoracic dysplasia

A
  • moderate rhizomelia
  • thorax long and narrow
  • cystic renal dysplaisa
  • polydactyl
51
Q

what is another name for ellis-van creveld syndrome

A
  • chondroectodermal dysplasia
52
Q

what are the features of ellis-van creveld syndrome

A
  • short limbs
  • short ribs
  • carrot thorax
  • polydactyl
  • dysplastic nails and teeth
  • upper lip abnormalities
  • congenital heart disease
53
Q

what is aase syndrome

A
  • AR
  • underdevelopment of bone marrow causing anemia
  • severe cases will be still born
54
Q

what re the features of aase syndrome

A
  • congenital limb contracutres
  • cleft palate
  • ear deformities
  • droopy eyelids
55
Q

what is holt-oram syndrome

A
  • AD

- skeletal and cardiac abnormalities

56
Q

what are the skeletal and cardiac abnormalities from holt Oram syndrome

A 
- upper limb abnormalities
  \+ tri[halangeal thumb
  \+ phocomelia
  \+ radial ray syndrome 
- cardiac defects determine the severity of outcome
57
Q

what is TAR syndrome

A
  • thrombocytopenia-absent radius syndrome

- bilateral absent radii

58
Q

what is radial ray syndrome

A
  • absent or hypoplastic radius
  • holt oram
  • Robert phocomelia
  • VACTERL
59
Q

what is talipes equinovarus

A
  • club foot

- chromosomal NTD skeletal or decreased fluid

60
Q

what is rocker bottom foot

A
  • absent arch due to large calcaneus bone
61
Q

what are 7 focal limb abnormalities

A
  • polydactyly
  • oligodactyly
  • syndactyly
  • brachydactyly
  • clinodactyly
  • hitch hikers thumb
62
Q

what is clinodactyly

A
  • missing middle phalanx
63
Q

what is syndactyly

A
  • fused fingers
64
Q

polydactyly

A
  • extra fingers
65
Q

what is talipomanus

A
  • club hand
66
Q

what is Amelia

A
  • absence of one or more limbs
67
Q

what is hemimelia

A
  • absence of oner or more extremities below the elbow or knee
68
Q

what is acheria

A
  • absence of one or more hands
69
Q

what is apodia

A
  • absence of one or more feet
70
Q

what is adactyly

A
  • absence of one or more digits from the hands or feet
71
Q

what is meromelia

A
  • absence of part of a limb
72
Q

what is ectrodactyly

A
  • split hand or split foot
73
Q

what is amniotic band syndrome

A
  • results from 1st trimester rupture of amnion
74
Q

what 3 things does ABS result in

A
  • constriction
  • clefting
  • amputation
75
Q

what should we asses with ?dysplasia

A
  • length of all bones including clavicle
  • shape contour and density of al bones
  • spine
  • thoracic circumference and shape as well as cardiac circumference
  • hands and feet
  • skull and face
  • skin folds
  • amniotic fluid
76
Q

why should we measure foot length

A
  • fetal foot more accurate measurement for gestational age in the case of skeletal displace
77
Q

if the thorax seems abnormally small then what dysplasias should we considered

A
  • achondrogenesis
  • homozygous achondroplasia
  • osteogenesis imperfecta
  • thantophoric dwarfism
  • hypophospatasia
78
Q

what four things can help us determine if a skeletal dysplasia is lethal or non lethal

A
  • severe micromelia
  • decrease thorax circumference
  • long bone fractures
  • kleeblattshadel

Ob/Gyne 3 (10 decks)

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