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

Module 7 : Skeletal Dysplasia Flashcards

(78 cards)

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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
what is the most common skeletal dysplasia
- thantophoric dysplasia
26
what do most fetus present with when having Thanato dysplasia
- LGA due to poly
27
what mutation causes Thanato dysplasia
- mutation of FGR3
28
what are the general abnormalities of Thanato dysplasia
- MICROMELIA - CLOVER LEAF SKULL (KLEEBLATTSCHADEL) - NARROW THORAX - PLATYSPONDYLY ( flatness of vertebral body)
29
which type of TD is most common
- type 1
30
what are the characteristics of TD type 1
- extreme rhizomelia - bowed bones - normal trunk length - platyspondyly - frontal bossing
31
what are the characteristics of TD type 2
- straighter long bones - taller vertebral bodies - KLEEBLATTSHADEL
32
what criteria determines if platyspondyly is present
- vertebral bodies are smaller or equal to the intervertebral space
33
what is the second most common lethal dwarfism
- achondrogenesis
34
what is achondrogenesis caused by
- decreased mineralization - autosomal recessive - parents often relative
35
which type fo achondrogenesis is more severe and less common
- Type 1 | - abnormal cranial and spinal ossification
36
what is the less severe more common type of achondrogenesis
- type II - abnormal vertebral body ossifications - normal cranium
37
what are the sonographic features of achondrogenesis
- MICROMELIA - SMALL THORAX - DECREASES MINERALIZATION OF BONES - FRACTURES AND BOWING OF LIMBS - MAY HAVE SEVERE HYDROPS
38
what is osteogenesis imperfecta
- autosomal dominant or recessive | - defective collagen
39
what are the types of osteogenesis imperfecta and which ones are lethal
- lethal = type IIA | - mild = type I, II, IV
40
what are the characteristics of osteogenesis imperfecta type IIA
- severe micromelia - thickeneing along bones from fractures - accordion bones - hypo mineralization of bone - rib fractures - platyspondyly
41
what is congenital hypophosphatasia
- autosomal recessive disease | - abnormal bone mineralization
42
what are 4 features of congenital hypophosphatasia
- variable micromelia - diffuse hypomineralization - bones are thinned, delicate, or absent - +/- fractures
43
what is another name for camptomelic dysplasia
- bent bone dysplasia
44
what are 4 common features of camptomelic dysplasia
- bowing of most long bones - severe talipes equinovarus - absent/hypoplastic fibulae - narrow thorax
45
what must occur for homozygous achondroplasia to happen
- one parent must be affected but usually its both parents
46
what are the characteristics of homozygous achondroplasia
- rhizomelia - small thorax - large cranium
47
what are 3 non lethal skeletal abnormalities
- heterozygous achondroplasia - asphyxiating thoracic dysplasia - dystrophic dysplasia
48
what are the features of heterozygous achondroplasia
- MODERATE RHIZOMELIA - NOTICED 3RD TRI - NORMAL THORAX - large calvarium - frontal bossing
49
what is the most common non lethal dysplasia
- heterozygous achondroplasia
50
what are the features of asphyxiating thoracic dysplasia
- moderate rhizomelia - thorax long and narrow - cystic renal dysplaisa - polydactyl
51
what is another name for ellis-van creveld syndrome
- chondroectodermal dysplasia
52
what are the features of ellis-van creveld syndrome
- short limbs - short ribs - carrot thorax - polydactyl - dysplastic nails and teeth - upper lip abnormalities - congenital heart disease
53
what is aase syndrome
- AR - underdevelopment of bone marrow causing anemia - severe cases will be still born
54
what re the features of aase syndrome
- congenital limb contracutres - cleft palate - ear deformities - droopy eyelids
55
what is holt-oram syndrome
- AD | - skeletal and cardiac abnormalities
56
what are the skeletal and cardiac abnormalities from holt Oram syndrome
``` - upper limb abnormalities + tri[halangeal thumb + phocomelia + radial ray syndrome - cardiac defects determine the severity of outcome ```
57
what is TAR syndrome
- thrombocytopenia-absent radius syndrome | - bilateral absent radii
58
what is radial ray syndrome
- absent or hypoplastic radius - holt oram - Robert phocomelia - VACTERL
59
what is talipes equinovarus
- club foot | - chromosomal NTD skeletal or decreased fluid
60
what is rocker bottom foot
- absent arch due to large calcaneus bone
61
what are 7 focal limb abnormalities
- polydactyly - oligodactyly - syndactyly - brachydactyly - clinodactyly - hitch hikers thumb
62
what is clinodactyly
- missing middle phalanx
63
what is syndactyly
- fused fingers
64
polydactyly
- extra fingers
65
what is talipomanus
- club hand
66
what is Amelia
- absence of one or more limbs
67
what is hemimelia
- absence of oner or more extremities below the elbow or knee
68
what is acheria
- absence of one or more hands
69
what is apodia
- absence of one or more feet
70
what is adactyly
- absence of one or more digits from the hands or feet
71
what is meromelia
- absence of part of a limb
72
what is ectrodactyly
- split hand or split foot
73
what is amniotic band syndrome
- results from 1st trimester rupture of amnion
74
what 3 things does ABS result in
- constriction - clefting - amputation
75
what should we asses with ?dysplasia
- 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
why should we measure foot length
- fetal foot more accurate measurement for gestational age in the case of skeletal displace
77
if the thorax seems abnormally small then what dysplasias should we considered
- achondrogenesis - homozygous achondroplasia - osteogenesis imperfecta - thantophoric dwarfism - hypophospatasia
78
what four things can help us determine if a skeletal dysplasia is lethal or non lethal
- severe micromelia - decrease thorax circumference - long bone fractures - kleeblattshadel

Ob/Gyne 3 (10 decks)

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