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IMG1036 (OB-GYN 2) > week 13- fetal MSK > Flashcards

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
Q

“cloverleaf” deformity is associated with ___

A

TD (thanatrophoric dysplasia)

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26
Q

common deformity name for kleeblattschadel

A

clover leaf head

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27
Q

3 most common lethal skeletal dysplasias

A
  • TD (thanatrophic dysplasia)
  • Achondrogenesis
  • Osteogenesis Imperfecta (type 2 is most severe)
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28
Q

lethal skeletal dysplasia is characterized by: (3)

A
  1. micromelia
  2. small thoracic circumference
  3. pulmonary hypoplasia
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29
Q

most common lethal skeletal dysplasia

A

thanatrophic dysplasia (TD)

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30
Q

the following are indicative of ___ skeletal dysplasia:

  • macrocephaly
  • frontal bossing
  • narrow throax
  • normal mineralization
A

TD

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31
Q

type __ Thanatrophic dysplasia (TD) is characterized by:

  • rhizomelia (small prox bones)
  • bowed long bones
  • platyspondyly (flat verts)
  • frontal bossing
A

1

32
Q

type __ thanatrophic dysplasia (TD) is characterized by:

  • straighter long bones
  • tall verts
  • kleeblattshadel (cloverleaf skull)
A

2

33
Q

pulmonary hypoplasia is commonly associated with ___ and ___

A

narrow thorax & oligohydramnios

34
Q

prognosis of TD

A

poor

35
Q

the following are indicative of ___ skeletal dysplasia:

  • hypomineralization
  • narrow thorax
  • bone fractures (bowing)
  • micromelia
  • micrognathia
  • pulmonary hypoplasia
A

Achondrogenesis anomalies

36
Q

the following are indicative of ___ skeletal dysplasia:

  • curved / bowed long bones (fractures)
  • hypomineralization
  • BELL SHAPED thorax
A

osteogenesis imperfecta

37
Q

most severe form of OI (osteogensis imperfecta)

A

type 2

38
Q

mildest form of OI that does not present until later in life

A

type 4

39
Q

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
A

congenital hypophosphatasia anomalies

40
Q

rare, autosomal recessive, no gender preference micromelic dwarfism presents with:

  • narrow thorax
  • hypomineralization
  • polydactyly / syndactyly
  • GI/ genitourinary malformations
  • cleft lip/ palate
A

short rib- polydactyly syndrome

41
Q

short rib polydactyly syndrome fetus dies ___ after birth commonly due to pulmonary hypoplasia

A

hours

42
Q

asphyxiating thoracic dysplasia also known as ____ syndrome

A

jeune

43
Q

Ellis- van creveld syndrome is associated with ___ malformations, ___, ____

A
  • heart
  • dysplasic nails/ teeth
  • abnormal upper lip
44
Q

t/f: asphyxiating thoracic dysplasia is non-lethal

A

false

  • it is lethal
  • pulmonary hypoplasia
45
Q

t/f: ellis-van creveld syndrome pt’s live to adulthood

A

true

46
Q

t/f: Achondroplasia Anomalies prognosis is poor

A

FALSE

-prognosis is good

47
Q

most common NON-lethal type of dwarfism

A

achondroplasia

48
Q

is Achondroplasia autosomal dominant or recessive?

A

dominant

49
Q

the following are indicative of ____:

  • rhizomelic limb bowing
  • frontal bossing
  • macrocephaly with hydrocephaly
  • trident config of had
A

Achondroplasia Anomalies

50
Q

people with Achondroplasia Anomalies have ____ intelligence and life expectance

A

normal

51
Q

“bent bone”

A

camptomelic dysplasia

52
Q

group of lethal skeletal dysplasias characterized by bowing of long bones

A

camptomelic dysplasia

53
Q

camptomelic dysplasia cases occur as ___ and are inherited in autosomal ___ pattern

A
  • spontaneous/ random

- recessive

54
Q

camptomelic dysplasia infants typically die within neonatal period of the first ___ by ____

A

year

pulmonary hypoplasia

55
Q

2 of the most common sonographic findings of ___:

  • cleidocranial
  • craniofacial
A

dysostosis

56
Q

dysostosis is

A

abnormal ossification

57
Q

what syndrome is characterized by:

  • congenital hypoplastic anemia
  • radial clubhand
  • triphanlangeal thumb
  • hypoplastic distal radius
  • cardiovascular defects
A

aase syndrome

58
Q

appears as linear density attached from one uterine wall to another or uterine wall to fetal part

A

amniotic band sequences

59
Q

what organ systems can ABS (amniotic band sequence) affect?

A
  • cranial fascial (anencephaly/ cleft lip & palate)
  • body wall defects (omphalocele, ectopic cordis, gastroschisis)
  • limb defects (amputations, club foot, lymphedema)
60
Q

mermaid syndrome

A

sirenomelia

61
Q

sirenomelia (mermaid syndrome) is associated with maternal ___ &___

A

diabetes & cocaine use

62
Q

fusion of both lower extremities or single lower extremity and renal agenesis

A

sirenomelia (mermaid syndrome)

63
Q

prognosis of sirenomelia? why?

A

poor bc of renal agenesis

64
Q

a pattern of multiple anomalies related to a single causative factor of pathology is termed ____

A

syndrome

65
Q

a pattern of multiple anomalies seen in numerous individuals not related to a single causative factor or pathology is termed ___

A

association

66
Q

a pattern of multiple anomalies that result from an internal single anomaly is termed ____

A

sequence

67
Q

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

A

Achondroplasia

68
Q

Micrognathia is is characterized as which one of the following?

An abnormally small lower jaw
Abnormally shaped ears
Frontal bossing
A prominent forehead

A

An abnormally small lower jaw

69
Q

Polyhydramnios is common with all of the following except:

Camptomelic dysplasia
TD
Short rib-polydactyly syndrome
Achondroplasia

A

Achondroplasia

70
Q

The premature fusion of one or several cranial sutures is called _____________________________________

A

craniosynostosis

71
Q

A short limb dysplasia affecting the humerus is called:

A

Rhizomelia

72
Q

Amniotic band sequence is believed to be related to all of the following except:

Cleft lip/palate
Ectopia cordis
Polydactyly
Amputation

A

Polydactyly

73
Q

What is the most likely cause of digit and limb amputation?

Amniotic sheets
Oligohydramnios
Amniotic bands
Dysostosis

A

Amniotic bands

74
Q

The most severe form of Osteogenesis imperfecta (OI) is type ____________________

A

2

75
Q

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

A

Three middle digits of the hand

IMG1036 (OB-GYN 2) (3 decks)

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