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OB 2 > The Fetal Skeleton > Flashcards

The Fetal Skeleton Flashcards

1
Q

Aplasia

A

Absence of bone

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2
Q

Hypoplasia

A

Incomplete development

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3
Q

Amelia

A

Absence of one or more limbs

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4
Q

Hemimelia

A

Absence of one or more extremities below the elbow or knee

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5
Q

Acheiria

A

Absence of one or more hands

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6
Q

Apodia

A

Absence of one or more feet

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7
Q

Adactyly

A

Absence of one or more digits from the hands of feet

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8
Q

Phocomelia

A

Absence of the proximal portion of an extremity with the hand or foot attached to the trunk

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9
Q

Meromelia

A

Absence of part of a limb

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10
Q

Aplasia or hypoplasia of what bone is common in many skeletal syndrome?

A

Radius

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11
Q

What abnormality can be described as a linear density attached from the uterine wall?

A

ABS

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12
Q

What abnormality is known as mermaid syndrome?

A

Sirenomelia

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13
Q

Prognosis for sirenomelia is usually poor due to?

A

Renal agenesis

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14
Q

What is known as a rare form of short limbed dwarfism?

A

Camptomelic dysplasia

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15
Q

What is an inherited rare disease of defective bone mineralization?

A

Congenital hypophosphatasia

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16
Q

Apert syndrome is a type of what?

A

Craniofacial dysotosis

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17
Q

In what abnormality is trident hand seen in?

A

Achondroplasia

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18
Q

A persistently clenched hand with an overlapping index finger is strongly associated with?

A

Trisomy 18

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19
Q

Pre-axial polydactyly affects?

A

Radial side

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20
Q

Post-axial polydactyly affects?

A

Ulnar side

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21
Q

Achondroplasia sonographic features:
Ready
For
Little
Tiny
Men

A

Rhizomelic limbs
Frontal bossing
Low nasal bridge
Trident hand
Macrocephaly/hydrocephaly

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22
Q

How early can limb buds be visualized?

A

8 weeks

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23
Q

When do the bones in hands and feet form?

A

11-13 weeks

24
Q

When can fetal long bones be accurately measured?

25
Q

Femoral length varies according to what factors?

A
  1. Maternal weight
  2. Ethnicity
  3. Height
26
Q

T or F? The fetal femur grows 2mm per week in the third trimester?

A

FALSE: It grows 3mm per week from 14-27 weeks and 1mm per week in the third trimester

27
Q

Features of bones in skeletal dysplasia?

A
  1. Shortened
  2. Thinned
  3. Deformed
28
Q

What abnormality is associated with craniosynostosis/ or cloverleaf deformity?

A

Thanatophoric Dysplasia

29
Q

Lethal skeletal dysplasias are often accompanied by?

A

Pulmonary hypoplasia

30
Q

What type of TD is most common?

31
Q

In what abnormality do the limbs have a “telephone receiver appearance”?

A

TD - Type I

32
Q

What is the most common form of lethal skeletal dysplasia?

33
Q

What abnormality is seen with platyspondyly?

34
Q

Most common skeletal dysplasia to result in stillbirth?

35
Q

What abnormality is seen with a “champagne cork appearance” of a narrow thorax with protruding abdomen?

36
Q

Two types of Achondrogenesis?

A

Type I - Parenti Fraccaro

Type II - Langer Saldino

37
Q

OI may present with what three things:

A

Long bone and rib fractures
Blue sclera
Hearing impairment

38
Q

What type of OI is caused by an abnormal decrease in collagen?

39
Q

When do most rib fractures occur in Type I osteogenesis imperfecta?

A

After birth

40
Q

What is the most mild and most severe form of OI?

A

Type II - most severe

Type IV - most mild

41
Q

In what type of OI do infants die shortly after birth?

42
Q

In what abnormality may you see a bell-shaped appearance of the thorax?

A

Type II OI and Camptomelic Dysplasia

43
Q

What type of OI do you see limb bowing in utero?

44
Q

What type of OI is not detected in utero?

45
Q

Characteristics of Camptomelic Dysplasia:

A

Short bowed limbs
Short trunk
Large head
Bell-shaped chest
Hypoplastic scapule

46
Q

In what abnormality might the skull be easily compressed and spurs are seen in the middle of long bones?

A

Congenital hypophosphatasia

47
Q

What type of congenital hypophosphatasia is detected in utero?

A

Type I - decreased ossification with short, bent bones

48
Q

What abnormality is known as abnormal ossification?

A

Dysostosis

49
Q

What abnormality is associated with widening of the cranial fontanelles?

A

Cleidocranial dysostosis

50
Q

What abnormality is associated with absent or hypoplastic clavicles?

A

Cleidocranial dysostosis

51
Q

“Mitten hand” is seen in what abnormality?

A

Apert syndrome

52
Q

When can the fetal hands be best visualized? (trimester)

A

Late first or mid-second

53
Q

Has poly or oligo been reported in fetuses with VACTERL?

A

Polyhydramnios

54
Q

Clubfoot is most commonly due to?

A

Oligohydramnios

55
Q

In what abnormality will you see an overall reduction in ossification with short-bent bones?

A

Congenital hypophosphatagia

56
Q

T or F? Type 2 congenital hypophosphatasia is lethal

A

False: Type 1 is detected in utero and is lethal

57
Q

What abnormalities can VACTERL Association possibly simulate? (3)

A

Trisomy 13
Trisomy 18
Sirenomelia

OB 2 (20 decks)

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