week 13- fetal MSK Flashcards

1
Q

extra digits on the fetal hands or feet

A

polydactyly

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2
Q

t/f: polydactyly is the most common hand anomaly

A

true

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3
Q

pre axial polydactyly affects the ___ side

A

thumb (radial)

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4
Q

post axial polydactyly affects the __ side

A

pinky (ulnar)

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5
Q

foot being excessively medially deviated

A

club foot

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6
Q

clubfoot is associated with ___ or other conditions that restrict fetal movement

A

oligohydramnios

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7
Q

characterized by the absence of digits

A

ectrodactyly

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8
Q

Absence of the ___ digit is classical ectrodactyly

A

THIRD

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9
Q

webbing or conjoined fingers or toes

A

syndactyly

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10
Q

“lobster claw” appearance

A

ectodactyly

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11
Q

ectodactyly results from abnormal development of the hand/ foot during ___ week gestation

A

7th

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12
Q

ectodacytly is commonly found in ___ syndrome

A

cornelia de lange

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13
Q

flexion of one or more digits which may result in a clenches fist is descriptive of ____

A

camptodactyly

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14
Q

___ is the curvature of a digit either medially or laterally

A

clinodactyly

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15
Q

abnormal development of the cartilaginous and osseous tissue

A

skeletal dysplasia

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16
Q

fetuses with long bone measurements more than __ SD below normal, additional anatomic scans required

A

2

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17
Q

indications of skeletal dysplasia

A
  • bowing of long bones
  • hypomineralization
  • shortened limbs
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18
Q

4 categories of limb dysplasia

A
  • rhizomelia
  • mesomelia
  • acromelia
  • micromelia
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19
Q

proximal portion of the extremity is shortened (femur or humerus)

A

rhizomelia

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20
Q

middle portion of the extremity is shortened (radius, ulna, tibia, fibula)

A

mesomelia

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21
Q

distal portion of the extremity is shortened (metacarples or metatarples)

A

acromelia

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22
Q

shortening of the whole extremity

A

micromelia

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23
Q

midshaft bowing of long bones correlates to ____

A

fracture

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24
Q

kleeblattschadel is the most severe form of ____

A

craniosynostosis (premature fusion of one or more cranial structures)

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25
"cloverleaf" deformity is associated with ___
TD (thanatrophoric dysplasia)
26
common deformity name for kleeblattschadel
clover leaf head
27
3 most common lethal skeletal dysplasias
- TD (thanatrophic dysplasia) - Achondrogenesis - Osteogenesis Imperfecta (type 2 is most severe)
28
lethal skeletal dysplasia is characterized by: (3)
1. micromelia 2. small thoracic circumference 3. pulmonary hypoplasia
29
most common lethal skeletal dysplasia
thanatrophic dysplasia (TD)
30
the following are indicative of ___ skeletal dysplasia: - macrocephaly - frontal bossing - narrow throax - normal mineralization
TD
31
type __ Thanatrophic dysplasia (TD) is characterized by: - rhizomelia (small prox bones) - bowed long bones - platyspondyly (flat verts) - frontal bossing
1
32
type __ thanatrophic dysplasia (TD) is characterized by: - straighter long bones - tall verts - kleeblattshadel (cloverleaf skull)
2
33
pulmonary hypoplasia is commonly associated with ___ and ___
narrow thorax & oligohydramnios
34
prognosis of TD
poor
35
the following are indicative of ___ skeletal dysplasia: - hypomineralization - narrow thorax - bone fractures (bowing) - micromelia - micrognathia - pulmonary hypoplasia
Achondrogenesis anomalies
36
the following are indicative of ___ skeletal dysplasia: - curved / bowed long bones (fractures) - hypomineralization - BELL SHAPED thorax
osteogenesis imperfecta
37
most severe form of OI (osteogensis imperfecta)
type 2
38
mildest form of OI that does not present until later in life
type 4
39
the following are indicative of _____: - hypomineralization of all fetal bones especially the skull - easily compressed skull - curved/ bowed long bones - short bones - low serum alkaline phosphatase
congenital hypophosphatasia anomalies
40
rare, autosomal recessive, no gender preference micromelic dwarfism presents with: - narrow thorax - hypomineralization - polydactyly / syndactyly - GI/ genitourinary malformations - cleft lip/ palate
short rib- polydactyly syndrome
41
short rib polydactyly syndrome fetus dies ___ after birth commonly due to pulmonary hypoplasia
hours
42
asphyxiating thoracic dysplasia also known as ____ syndrome
jeune
43
Ellis- van creveld syndrome is associated with ___ malformations, ___, ____
- heart - dysplasic nails/ teeth - abnormal upper lip
44
t/f: asphyxiating thoracic dysplasia is non-lethal
false - it is lethal - pulmonary hypoplasia
45
t/f: ellis-van creveld syndrome pt's live to adulthood
true
46
t/f: Achondroplasia Anomalies prognosis is poor
FALSE | -prognosis is good
47
most common NON-lethal type of dwarfism
achondroplasia
48
is Achondroplasia autosomal dominant or recessive?
dominant
49
the following are indicative of ____: - rhizomelic limb bowing - frontal bossing - macrocephaly with hydrocephaly - trident config of had
Achondroplasia Anomalies
50
people with Achondroplasia Anomalies have ____ intelligence and life expectance
normal
51
"bent bone"
camptomelic dysplasia
52
group of lethal skeletal dysplasias characterized by bowing of long bones
camptomelic dysplasia
53
camptomelic dysplasia cases occur as ___ and are inherited in autosomal ___ pattern
- spontaneous/ random | - recessive
54
camptomelic dysplasia infants typically die within neonatal period of the first ___ by ____
year | pulmonary hypoplasia
55
2 of the most common sonographic findings of ___: - cleidocranial - craniofacial
dysostosis
56
dysostosis is
abnormal ossification
57
what syndrome is characterized by: - congenital hypoplastic anemia - radial clubhand - triphanlangeal thumb - hypoplastic distal radius - cardiovascular defects
aase syndrome
58
appears as linear density attached from one uterine wall to another or uterine wall to fetal part
amniotic band sequences
59
what organ systems can ABS (amniotic band sequence) affect?
- cranial fascial (anencephaly/ cleft lip & palate) - body wall defects (omphalocele, ectopic cordis, gastroschisis) - limb defects (amputations, club foot, lymphedema)
60
mermaid syndrome
sirenomelia
61
sirenomelia (mermaid syndrome) is associated with maternal ___ &___
diabetes & cocaine use
62
fusion of both lower extremities or single lower extremity and renal agenesis
sirenomelia (mermaid syndrome)
63
prognosis of sirenomelia? why?
poor bc of renal agenesis
64
a pattern of multiple anomalies related to a single causative factor of pathology is termed ____
syndrome
65
a pattern of multiple anomalies seen in numerous individuals not related to a single causative factor or pathology is termed ___
association
66
a pattern of multiple anomalies that result from an internal single anomaly is termed ____
sequence
67
Characteristics of rhizomelia, limb bowing, frontal bossing, a low nasal bridge, a "trident" configuration of the hands, macrocephaly and hydrocephaly may be noted with. Achondrogenesis Achondroplasia Sirenomelia Phocomelia
Achondroplasia
68
Micrognathia is is characterized as which one of the following? An abnormally small lower jaw Abnormally shaped ears Frontal bossing A prominent forehead
An abnormally small lower jaw
69
Polyhydramnios is common with all of the following except: Camptomelic dysplasia TD Short rib-polydactyly syndrome Achondroplasia
Achondroplasia
70
The premature fusion of one or several cranial sutures is called _____________________________________
craniosynostosis
71
A short limb dysplasia affecting the humerus is called:
Rhizomelia
72
Amniotic band sequence is believed to be related to all of the following except: Cleft lip/palate Ectopia cordis Polydactyly Amputation
Polydactyly
73
What is the most likely cause of digit and limb amputation? Amniotic sheets Oligohydramnios Amniotic bands Dysostosis
Amniotic bands
74
The most severe form of Osteogenesis imperfecta (OI) is type ____________________
2
75
Central polydactyly affects the: Radial side of the hand Ulnar side of the hand Three middle digits of the hand Plant side of the hand
Three middle digits of the hand