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CNIH > OB- syndromes > Flashcards

OB- syndromes Flashcards

1
Q

Most common chromosomal abnormality?

A

Tri- 21

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2
Q

risk factors of Tri-21? (2)

A
  1. advanced maternal age

2. previous child with Tri-21

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3
Q

head anomalies associated with Tri 21? (2)

A
  • ventriculomegly (10-12mm)

- nuchal thickening

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4
Q

abnormal nuchal thickening?

A

> 6 mm at 15-20 weeks = abnormal

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5
Q

Tri 21 cardiac anomalies? (2)

A
  • most common: aterioventricular canal defect

- echogenic intracardia foci

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6
Q

what % of tri 21 patients will have a cardiac defect?

A

50%

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7
Q

3 clinical presentations associated with Tri 21?

A
  1. duodenal atresia
  2. echogenic bowel
  3. mild pyelectasis
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8
Q

what fraction of duodenal atresia cases are associated with Tri-21?

A

1/3rd

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9
Q

what is mild pyelectasis?

A
  • renal antero-postrior diameter >4mm in fetus <20 weeks GA
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10
Q

Exremity anomalies associated with tri 21? (4)

A
  1. widened iliac angle
  2. rhizomelia
  3. clinodacyly
  4. sandal gap toes
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11
Q

what is widened iliac angle?

  • degree in patients with tri-21?
A
  • iliac angle is measured in an axial view of the fetal plevis.
  • angle formed by the convergence of lines drawn along the posterolateral aspect of the right and left iliac wings of ilium
  • 60° to 75° in fetuses with Tri-21
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12
Q

What is Clinodactyly of the 5th digit: (60%)?

A

Tri-21 is often accompanied by hypoplasia of the middle phalanx of the 5th digit resulting in clinodactyly of the digit (inward-curvature)

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13
Q

what is sandal gap toes?

A

extra separation of the 1st and 2nd toes

- uncommon finding associated with tri 21

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14
Q

Tri 18 is also known as?

A

Edwards syndrome

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15
Q

Rate of tri 18?

A

1 in 8000 births

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16
Q

Risk of tri 18? (3)

A
  1. advanced maternal age
  2. previously affected child
  3. IUGR
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17
Q

Head anomlies associated with tri 18? (3)

A
  1. strawberry shaped head
  2. choroid plexus cyst
  3. enlarged cisterna magna
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18
Q

what is the most common chromosomal abnormality associated with choroid plexus cyst?

A

Tri 18

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19
Q

Cardiac anomalies associated with tri 18? (2)

A
  1. venricular septal defect (VSD)

2. atrial septal defect (ASD)

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20
Q

what is the most common association to omphalocele?

A

tri 18

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21
Q

what is most commonly associated with congenital diaphragmatic hernia?

A

Tri 18

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22
Q

Extremities abnormalities associated with tri 18? (3)

A
  1. clenched hands with overlapping digits
  2. club foot
  3. rocker bottom feet
23
Q

Tri 13 AKA?

A

patau’s syndrome

24
Q

tri 13 risk? (3)

A
  1. advanced maternal age
  2. IUGR
  3. Previously affected child
25
Q

Rate of Tri 13?

A

1 in 25 000 births

26
Q

Head abnormalities associated with tri 13? (5)

A
  1. microcephaly
  2. holoprosencephaly
  3. cleft lip
  4. ocular abnormalities
  5. nose abnormalities
26
Q

Head abnormalities associated with tri 13? (5)

A
  1. microcephaly
  2. holoprosencephaly
  3. cleft lip
  4. ocular abnormalities
  5. nose abnormalities
27
Q

cardiac abnormalities associated with tri 13?

A

VSD

28
Q

Most common genitourinary abnormlity associated with tri 13?

A

cystic renal dysplasia

29
Q

Extremity abnormality associated with tri 13?

A

polydactyly

30
Q

what is 45, XO: Turner’s Syndrome?

A
  • aneuploidy with one of the x chromosomes missing

- not associated with maternal age

31
Q

risk factors 45, XO: Turner’s Syndrome? (1)

A
  1. female only
32
Q

Head abnormalities associated with 45, XO: Turner’s Syndrome? (2)

A
  1. cystic hygroma

2. webbed neck

33
Q

heart anomalie associated with 45, XO: Turner’s Syndrome? (1)

A
  • coarction of aorta
34
Q

what is most commonly associated with hydrops?

A
  1. 45, XO: Turner’s Syndrome

2. Tri 21

35
Q

Extremity abnormality associated with 45, XO: Turner’s Syndrome?

A

swollen hands

36
Q

what is noonan sydrome?

A
  • genetic mutaiton

- condition that affects many areas of the body

37
Q

how is noonans sydrome characterized?

A

Mildly unusual facial characteristics (distinctive)

  • A deep groove in the area between the nose and mouth (philtrum)
  • Widely spaced eyes that are usually pale blue or blue-green in color
  • Low-set ears that are rotated backward
  • High arched palate
  • poor alignment of the teeth
  • micrognathia
  • short neck
  • excess neck skin (also called webbing)
  • low hairline at the back of the neck
  • Short stature
  • Heart defects
  • Bleeding problems
  • Skeletal malformations
38
Q

Trisomy VS. triploidy?

A

trisomy:

  • 3 copies of a chromosome or part of a chromosome
  • normal chromosome # increased by 1 to 47

Triploidy:

  • 3 copies of every chromosone
  • normal chromosome number increases by 23 to 69
39
Q

What 2 things are NOT associated with advanced maternal age?

A
  1. triploidy

2. 45,XO

40
Q

Triplody risk?

A

IUGR

41
Q

4 anomalies associated with triploidy?

A

 Brain: alobar holoprosencephaly
 Hands and feet (polydactyly)
 Short femur (60%)
 Molar pregnancy (prior 20 weeks gestation)

42
Q

pentalogy of cantrell is an association of? (5)

A
  1. ectopia cordis
  2. heart defect
  3. diphragmatic hernia
  4. pericardial defect
  5. omphalocele
43
Q

Beckwith-Wiedemann Syndrome growth begins at when age?

A

8 years old

44
Q

specific parts of the body that may grow abnormally large, leading to an asymmetric or uneven appearance is known as?

A

hemihyperplasia

45
Q

associations of Beckwith-Wiedemann Syndrome? (4)

A

Macrosomia
Macroglassia
Omphalocele
Renal neoplasm

46
Q

What is Meckel-Gruber Syndrome?

A

disorder with severe signs and symptoms that affect many parts of the body

47
Q

common features of Meckel-Gruber Syndrome? (4)

A
  • Enlarged kidneys with numerous fluid-filled cysts
  • occipital encephalocele
  • polydactyly
  • Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver
48
Q

Meckel-Gruber Syndrome prognosis?

A

die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.

49
Q

What is Walker Warburg Syndrome?

- what does it affect? (3)

A

An inherited disorder that affects development of the muscles, brain, and eyes

50
Q

Walker Warburg Syndrome prognosiS?

A
  • most die by 3 years
51
Q

Walker Warburg Syndrome presents as?

A

Affects the skeletal muscles (muscles used for movement). Affected babies have weak muscle tone (hypotonia) and are sometimes described as “floppy.” The muscle weakness worsens over time.

52
Q

Walker-Warburg syndrome affects of the brain?

A

cobblestone lissencephaly: the surface of the brain lacks the normal folds and grooves and instead develops a bumpy, irregular appearance (like that of cobblestones)

53
Q

What is Smith Lemli Opitz Syndrome?

A

A developmental disorder that affects many parts of the body
Characterized by:

  • Distinctive facial features
  • Microcephaly
  • Intellectual disability or learning problems
  • Behavioral problems.

Many affected children have the characteristic features of autism: a developmental condition that affects communication and social interaction.

CNIH (69 decks)

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