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OB-Hagen > Chapter 65 Fetal Skeleton > Flashcards

Chapter 65 Fetal Skeleton Flashcards

1
Q

term used to describe abnormal growth and density of bones and cartilage

A

Skeletal dysplasia

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2
Q
  • refers to disproportionately short stature

- occurs secondary to skeletal dysplasia

A

dwarfism

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3
Q

dysplasia is suspected when limb lengths fall more than ____ standard deviations below the mean

A

2

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4
Q

when skeletal dysplasia is suspected, the protocol should be adjusted to include:

A
  1. Asses limb shortening
  2. Assess bone contour
  3. Estimate degree of ossification
  4. Evaluate thoracic circumference and shape
  5. survey for coexistent hand and foot anomalies
  6. evaluate face & profile
  7. Survey for other anomalies
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5
Q

when assesing the bone contour, you should note:

A

-fractures, thickness, abnormal bowing, ribbon-like appearance, curvature

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6
Q

decreased attenuation of bones with decreased shadowing suggest _________

A

hypomineralization

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7
Q

when evaluating the face & profile, be especially aware of:

A

facial clefts

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8
Q

shortening of the humerus/femur(proximal segment)

A

rhizomelia

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9
Q

shortening of the radius/ulna or tib/fib(middle)

A

mesomelia

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10
Q

shortening of the proximal & middle segments

A

micromelia

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11
Q

most common lethal skeletal dysplasia:

A

thanatophoric dysplasia

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12
Q

subdivision of thanatophoric dysplasia that has short CURVED femurs and flat vertebral bodies.

A

Type 1

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13
Q

subdivision of thanatophoric dysplasia that has short STRAIGHT femurs, flat vertebral bodies, and cloverleaf skull

A

Type 2

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14
Q

Infants with thanatophoric dysplasia die shortly after birth due to:

A

pulmonary hypoplasia from the narrow thorax

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15
Q

sonographically, thanatophoric dysplasia will have:

A

severve micromelia(especially proximal bones

  • clover-leaf skull
  • frontal bossing
  • narrowed thorax and shortened ribs
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16
Q

most common non-lethal skeletal dysplasia

A

achondroplasia

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17
Q

_____ increases the risk of achondroplasia

A

advanced paternal age

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18
Q

lethal form of achondroplasia

A

homozygous achondroplasia

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19
Q

most common cause of achondroplasia

A

spontaneous mutation

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20
Q

form of achondroplasia inherited from 1 parent, normal intelligence and life span

A

heterozygous achondroplasia

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21
Q

sonographic findings of achondroplasia:

A
  • rhizomelia
  • macrocephally
  • trident hands
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22
Q

caused by cartilage abnormalities which result in abnormal bone formation & hypomineralization

A

achondrogenesis

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23
Q

type 1 achondrogenesis:

A
  • more severe

- autosomal-recessive

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24
Q

type 2 achondrogenesis:

A
  • less severe
  • more common
  • results from spontaneous mutation
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25
Q

patients with achondrogenesis are either stillborn or die shortly after birth due to _____

A

pulmonary hypoplasia

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26
Q

sonographic findings of achondrogenesis:

A
  • severe micromelia
  • macrocephaly
  • micrognathia
  • decreased/absent ossification of spine
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27
Q

disorder of collagen production leading to brittle-bones

A

Osteogenesis Imperfecta

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28
Q

blue sclera(blue tint to the whites of the eyes) occurs with

A

osteogenesis imperfecta

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29
Q

osteogenesis imperfecta classifications: _____ & ______ are the mildest forms

A

types 1 and 4

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30
Q

osteogenesis imperfecta classifications: severe form, transmited autosomal-dominant/recessive manner

A

type 3

31
Q

osteogenesis imperfecta classifications: most severe form, lethal. Inherited autosomal dominant/recessive, or spontaneous mutation

A

type 2

32
Q

sonographic findings of osteogenesis imperfecta:

A
  • increased NT in 1st trimester
  • hypomineralization, especially of the skull
  • multiple fractures
  • compressible skull bones
33
Q

Diffuse hypomineralization of bone caused by an alkaline phosphatase deficiency

A

congenital hypophosphatasia

34
Q

diagnosis of congenital hypophosphatasia is achieved through:

A
  • fetal blood sampling
  • Chorionic Vili sampling(CVS)
  • DNA analysis
35
Q

sonographic findings of congenital hypophosphatasia:

A
  • diffuse hypomineralization

- poorly ossified cranium with well visualized brain structures

36
Q

rare, characterized by micromelia, fixed abducted thumb(Hitch-hikers thumb), micrognathia

A

Diastropic Dysplasia

37
Q

Characterized by bowing of the long bones

A

Camptomelic Dysplasia

38
Q

Camptomelic dysplasia is also known as _________

A

Bent Bone Dysplasia

39
Q

infants with camptomelic dysplasia usually die in the neonatal period due to

A

pulmonary hypoplasia

40
Q

sonographic findings of camptomelic dysplasia

A

bowing of long bones(especially the lower extremities)

41
Q

characterized by:

  • absent segment of an extremity
  • hands & feet are attached to body like a flipper
A

Roberts syndrome

42
Q

Roberts syndrome is also known as

A

pseudothalidomide syndrome

43
Q

sonographic findings of roberts syndrome

A

phocomelia(absent segment of extremity) with the upper extremities more severely affected

44
Q

Characterized by:

  • short ribs
  • extra fingers(polydactyl)
  • short limbs
A

Short-Rib Polydactyl syndrome

45
Q

characterized by small/narrow thorax, renal dysplasia, rhizomelia

A

Jeune’s syndrome

46
Q

Jeune’s syndrome is also known as

A

asphyxiating thoracic dysplasia

47
Q

Increased frequency amoung amish community, presents with narrow thorax, heart defects, limb shortening, abnormal teeth, thin hair, hypoplastic nails

A

Ellis-Van Creveld Syndrome

48
Q

Ellis-Van Creveld syndrome is also known as

A

Chondroectodermal dysplasia

49
Q

most common heart defect with Ellis-Van Creveld syndrome:

A

atrial septal defect

50
Q

Range of malformations of the caudal end of the neural tube

A

Caudal Regression syndrome

51
Q

Caudal Regression syndrome is linked to _____

A

maternal diabetes

52
Q

Sonographic findings of caudal regression syndrome:

A
  • absent sacrum and coccyx
  • decreased movement of lower extremities
  • abnormal lumbar vertebrae
53
Q

Fusion of the lower extremities

A

Sirenomelia

54
Q

Sirenomelia is also known as:

A

mermaid syndrome

55
Q

Sirenomelia is more common in:

A

males

56
Q

Sirenomelia is lethal due to:

A

-bilateral renal agenisis

57
Q

sirenomelia is associated with:

A
  • diabetes
  • cocaine use
  • monozygotic twinning
58
Q

sonographic findings of sirenomelia

A
  • bilateral renal agenesis
  • fusion of lower extremities
  • single umbilical artery
59
Q

VACTERL anomalies are:

A 
Vertebral
Anal atresia
Cardiac
TracheoEsophageal fistula
Renal
Limb dysplasia
60
Q

For VACTERL to be considered ________ features must be present

A

3 out of 5

61
Q

VACTERL-H is when VACTERL is seen with _____

A

hydrocephalus

62
Q

Severe contractures(hardening & shortening of muscles, tendons, or other tissue) of extremities

A

Athrogryposis Multiplex Congenita

63
Q

Sonographic findings of Athrogryposis Multiplex Congenita

A
  • rigid extremities

- hyperextension of knees

64
Q

Athrogryposis Multiplex Congenita is due to:

A
  • abnormal innervation

- disorders of muscles & connective tissue

65
Q

amputation defects may be seen in association to:

A

amniotic band syndrome

66
Q

congenital absence of 1 or all extremities

A

amelia

67
Q

fused digits

A

syndactyly

68
Q

overlapping digits

A

clinodactyly

69
Q

split hand/lobster claw deformity:

A

ectrodactyly

70
Q

abnormal inversion of the foot perpendicular to the lower leg

A

clubfoot

71
Q

rockerbottom foot is especially associated with

A

Trisomy 18

72
Q

hypoplasia or aplasia of the radius and thumb

A

Radial ray defects

73
Q

radial ray defects are associated with these chromosomal abnormalities:

A
  • Trisomy 13 & 18

- VACTERL

74
Q

radial ray defects are associated with these syndromes:

A
  • Holt-Oram syndrome

- TAR(thrombocytopenia with Absect Radi syndrome)

OB-Hagen (17 decks)

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