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OB 2nd & 3rd Trimester > Skeletal System > Flashcards

Skeletal System Flashcards

1
Q

Skeletal dysplasias can be caused by

A

Genetic mutations, or teratogens

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2
Q

Rhizomelic

A

Shortening of the proximal segment of an extremity such as femur or humerus

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3
Q

Mesomelic

A

Shortening of distal segment of an extremity

Such as radius, ulna, tib, fib

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4
Q

Micromelia

A

Shortening of both proximal and distal limb segments

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5
Q

Acromelia

A

Shortening of distal segments in hands and feet

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6
Q

Amelia

A

Absence of extremity

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7
Q

Polydactyl and Syndactyly

A

More than 5 digits

Or webbed hands/feet

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8
Q

Most common lethal dysplasia

A

Thanatophoric Dysplasia

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9
Q

Lethal Dysplasia is characterized by

A
  • Severe Micromelia, small thoracic circumference with pulmonary hypoplasia
  • Associated with polyhydramnios and thickened skin
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10
Q

Types of lethal dysplasias

A

Thanatophoric Dysplasia
Achondrogenesis
Osteogenesis Imperfecta
Short rib polydactyly

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11
Q

Thanatophoric Dysplasia

A 
Rhizomelia
Bowed long bones 
Cloverleaf head 
Horseshoe Kidney 
ASD 
Holoprosencephaly 
Large abd
Hypertelorism
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12
Q

Achondrogenesis

A

Short limbs due to abnormal bone formation and hypomineralization

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13
Q

Sono of achondrogenesis

A
  • Large cranium (macrocranium)
  • Short limbs (micromelia)
  • Short trunk length and thoracic cavity
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14
Q

2 types of achondrogenesis

A

Type 1: parenti-fraccaro

Type 2: Langer-Saldino

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15
Q

Type 1 of achondrogenesis

A

Less common BUT more severe
Autosomal Recessive
Partial/complete skull lack of ossification

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16
Q

Type 2 of achondrogenesis

A

More common BUT less severe
Spontaneous
No ossification of spine

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17
Q

Osteogenesis Imperfecta type 2!

A

Rare disorder of collagen forming factors causing fragile bones

Sono will show many fx, bowing and short limbs

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18
Q

Hypophospatasia Congenita

A

Diffuse hypomineralization caused by ALP deficiency

Auto recessive

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19
Q

How do you dx hypophospatasia congenita

A

Fetal blood sample, CVS, DNA analysis

20
Q

Camptomelic dysplasia

A

Hypoplastic or completely absent fibula

Club foot, scoliosis, heart disease, other abnormalities

21
Q

Bent limb dysplasia

A

Camptomelic Dysplasia

22
Q

Short rib polydactyly dysplasia

A

Auto recessive

Short ribs, limbs and polydactyly

23
Q

Non lethal dysplasias

A

Heterozygous achondroplasia
Diastrophic dysplasia
Chondroectodermal dysplasia
Osteogenesis imperfecta 1,3 and 4

24
Q

What is the most common NON lethal dx

A

heterozygous achondroplasia

25
Q

Heterozygous achondroplasia

A

Spontaneous OR auto dominant
Neuro complications
Sono: rhizomelia, frontal bossing, small nasal bridge

26
Q

Asphyxiating thoracic dysplasia

A 
Narrow thoracic cavity 
Pulmonary hypoplasia 
Micromelia
Renal dysplasia 
Polydactyly
27
Q

Jeune’s Syndrome

A

Asphyxiating thoracic dysplasia

28
Q

Diastrophic dysplasia

A

Rare!
Talipes, Cleft Pal, micrognathia, scoliosis
Normal life but under 4ft tall
Sono: hitchhiker thumb, club foot, dislocations

29
Q

Ellis-can creveld syndrome

A

Chondroectodermal dysplasia

  • disorder of bone growth leading to dwarfism
  • common with inbred communities
  • 50% have heart defects
30
Q

Miscellaneous limb deformities

A 
Amelia
Phocomelia 
Oligodactyly
Polydactyly
Sirenomelia
Radial Ray Defects 
Asso. with aneuploidy
31
Q

Phocomelia

A

Absence of PART of the limb

32
Q

Caudel Regression

A

Partial/total sacral a genesis

Sirenomelia is most severe form

33
Q

Sirenomelia

A

Mermaid Syndrome
Bilateral renal agenesis
Oligohydramnios
Single umbilical artery

34
Q

ABS

A

-Amniotic band breaks away from amnion and sticks to fetus, entangles and can cause amputations

35
Q

Radial Ray Defects

A
  • Absence of radius with a weird thumb

- Asso. T18, T13, VACTERL, Faconi’s, pancytopenia

36
Q

Arthrogyropsis Multiplex Congenita

A

Joint Contractures
Fetal Akinesia
Limb Ptyergium
Talipes and clinched hands

37
Q

Possible causes for Arthrogyrposis Multiplex Congenita

A

Oligo
Twinning (extrinsic)
Uterine masses

Neuromuscular disorder
Skeletal disorder
Connective tissue disorder (intrinsic)

38
Q

Limb Pterygium

A

Webbing of skin

39
Q

Hand and Foot Deformities

A 
Hitch Hiker thumb 
Ectrodactyly
Clinodactyly
Camptodactyly
Syndactyly
40
Q

Hitch Hiker thumb

A

Suggestive diastrophic dwarfism

Asso with aqueducts stenosis

41
Q

Ectrodactyly

A

Lobster Claw

Split hand and foot

42
Q

Clinodactyly

A

Permanent curvature of 5th digit

Asso with trisomy 13, 15, 18, 21

43
Q

Camptodactyly

A

Permanent flexion of digit

44
Q

Syndactyly

A

Fusion of digits

Asso with IUGR and triploidy

45
Q

Talipes equinovirus

A

Fancy name for club foot

46
Q

Rocker bottom foot

A

-Prominent calcaneus and convex plantar surface

47
Q

Sandal Toe

A

Large gap between 1st digit and the rest of the toes

Asso. with T21

OB 2nd & 3rd Trimester (5 decks)

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