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Peds > Syndromes, Embryology, Prematurity > Flashcards

Syndromes, Embryology, Prematurity Flashcards

1
Q

10-11th weeks of development, tongue is pulled down into its position allowing fusion of palate

A

Pierre Robin Sequence

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2
Q

Posterior displacement of tongue preventing closure of palate

Often presents with 3 abnormalities:
micrognathia, glossoptosis and cleft palate

A

Pierre Robin Sequence

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3
Q

Small birth weight

Small physical features: short palpebral fissure, smooth philtrum, thin upper lip

Developmental delays and congenital abnormalities of organs

A

Fetal Alcohol Syndrome

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4
Q

Characterized by females with absent or nonfunctional X chromosomes

A

Turner’s Syndrome

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5
Q

Short stature, webbed neck, broad chest

Ovarian insufficiency due to hypogonadism

Cardiac defects in 50%”

A

Turner’s Syndrome

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6
Q

How do you diagnose Turner’s Syndrome?

A

Karotyping (definitive dx)

Low Testosterone

High FSH + LH + Estradiol

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7
Q

How do you manage Turner’s Syndrome?

A

Testosterone for hypogonadism symptoms

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8
Q

X-linked disorder associated with loss of function FMR1 gene

A

Fragile X Syndrome

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9
Q

Most common gene-related cause of ASD

A

Fragile X Syndrome

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10
Q

Long narrow face, large ears, flexible fingers, and enlarged testes

A

Fragile X Syndrome

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11
Q

Cardiac anomalies

Hypoplastic or absent thymus and abnormal T cell fx

Hypocalcemia

Palatal and laryngeal abnormalities

A

22Q11.2 Deletion (DiGeorge)

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12
Q 
Common features: 
posteriorly rotated ears
bulbous nasal tip
hooded eyelids
micrognathia
A

22Q11.2 Deletion (DiGeorge)

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13
Q

Caudal Neuropore fails to close. Leads to non-fusion of vertebrae overlying spinal cord, and spinal cord protrusion through the opening most often at lumbar/sacral region

A

Spina bifida

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14
Q

Cranial Neuropore fails to close

A

Anencephaly

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15
Q

Risk factors of neural tube defects

A

Maternal folate deficiency

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16
Q

Derivatives of all 3 germ layers with a bizarre mixture of tissue types (all layers)

Remnants of the primitive streak

A

Sacrococcygeal Teratoma (SCT)

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17
Q

What is associated with gastrulation?

A

Sacrococcygeal Teratoma (SCT)

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18
Q

What is the MC tumor in newborns?

A

Sacrococcygeal Teratoma (SCT)

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19
Q

How do you dx and tx a Sacrococcygeal Teratoma (SCT)

A

Dx: Prenatally with routine US

Tx: Surgical excision through hysterotomy during pregnancy

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20
Q

Herniation of intracranial contents

A

Encephalocele

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21
Q

Where are encephaloceles most commonly found?

A

Occipital region

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22
Q

Midgut loop fails to return to abdominal cavity

A

Omphalocele

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23
Q

Pale, shiny sac protrudes from base of umbilical cord

A

Omphalocele

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24
Q

Group of heritable disorders that affect ectoderm in a developing baby

A

Ectodermal dysplasia (ED) Syndromes

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25
Q

Deficiency of hair, nails, teeth, sweat glands

Often malformed teeth and extremely sparse hair

A

Ectodermal dysplasia (ED) Syndromes

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26
Q

Herniation of abdominal contents into pleural cavity

A

Congenital Diaphragmatic Hernias

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27
Q

Caused by failure of pleuroperitoneal membranes to fuse with other components

A

Congenital Diaphragmatic Hernias

28
Q

Where are Congenital Diaphragmatic Hernias most commonly found?

A

L posterolateral side

29
Q

Flat abdomen, breathlessness, cyanosis

A

Congenital Diaphragmatic Hernias

30
Q

Failure of anterior abdominal wall musculature to close during folding

Gut contents not surrounded by membrane”

A

Gastroschisis

31
Q

Failure of vitelline duct to close.

A

Ileal diverticulum

32
Q

2% prevalence

Location 2ft proximal to ileocecal valve in adults

Half of those who are symptomatic are younger than 2yo

A

Ileal diverticulum

33
Q

Congenital aganglionic megacolon

A

Hirchsprung’s disease

34
Q

Failure of migration of neural crest cells that form the colonic ganglion cells.

A

Hirchsprung’s disease

35
Q

Why is having Hirchsprung’s disease so problematic?

A

Without parasympathetic innervation, colon cannot relax or undergo peristalsis, resulting in functional obstruction.

36
Q

Abnormal blood supply: usually from middle sacral or common iliac arteries

A

Renal Fusion

37
Q

This prevents normal rotation

A

Renal Fusion

38
Q

Ectopic kidney: may also be crossed with/without fusion

Horseshoe kidney

A

Renal Fusion

39
Q

Most renal fusions are found where?

A

90% fused at lower pole

Usually found inferior to inferior mesenteric artery

40
Q

When ectopic ureters enter the male genital tract, what are we most concerned for?

A

epididymorchitis

41
Q

Increased width between eyes, flattening of nose, large low-set ears

A

Potter Facies

42
Q

Potter Facies is most commonly found in which embryologic developmental problem?

A

Renal Agenesis

43
Q

Normal respiratory rate for <12 month

A

30-60 bpm

44
Q

Normal respiratory rate for 1-2 years

A

24-40 bpm

45
Q

Normal O2 Saturation on RA for pediatric patients

A

greater than/equal to 92%

46
Q

Define the category of a term baby

A

37-42 weeks

47
Q

Define the category of a late preterm baby

A

34-37 weeks

48
Q

Define the category of a moderate preterm baby

A

32-34 weeks

49
Q

Define the category of a very preterm baby

A

28-32 weeks

50
Q

Define the category of an extremely preterm baby

A

<28 weeks

51
Q

A newborn has increased O2 demand, so as their provider, you decide to see what’s going on and order a CXR. You notice a reticulogranular pattern with ground glass opacities and air bronchograms. What is the most likely diagnosis and how would you treat it?

A

Respiratory distress syndrome - MC disorder in premies!

Tx:

  • antenatal: steroids
  • postnatal: surfactant
52
Q

A neonate’s parent complains of bloody stool and abdominal distension. How would be the next best step in managing this patient?

A

Necrotizing enterocolitis

Dx: XR = pneumatosis intestinalis (air in intestinal wall)

Tx: NPO, IV antibiotics

53
Q

A premie of 31 weeks is delivered. What’s the protocol?

A

Do an eye exam to check for retinopathy of prematurity at 4 weeks.

Do a cranial U/S to check for intraventricular hemorrhage at 4 weeks.

54
Q

A premature infant is set to be sent home once they reach their corrected age. What are the goals the must be met in order for them to be sent home?

A
  • maintain O2 sat on room air without bradycardia
  • PO feedings + weight gain
  • temperature maintenance in an open crib
55
Q

A premature infant is sent home. As their PCP, what must you do?

A
  • Immunizations based on chronological age
  • Growth assessment - these are adjusted until 2 YO
  • Milestones + neurodevelopmental assessment via the Bayley or Denver II scale
56
Q

When can a patient:

  • start pubertal suppression?
  • start hormone therapy?
  • have sex reassignment surgery?
A
  • pubertal suppression: Tanner 2
  • hormone therapy: 16 yo
  • sex reassignment surgery: 18 yo
57
Q

What BMI percentile is considered overweight?

A

85-94th

58
Q

What BMI percentile is considered obese?

A

95+

59
Q

What are some early signs that a child may have ASD?

A

No joint attention by 12-15 months
No babbling/pointing by 12 months
No word by 16 months
No 2-word phrases by 24 months

60
Q

When is ASD specific screening done? What tool is used?

A

18 and 24 months

MCHAT

61
Q

Chorioretinitis - Bilateral inflammation of the choroid and retina of the eye

Intracranial calcifications

Hydrocephalus

A

Toxoplasmosis

62
Q

fever

low birth weight

Rash

Hutchinson’s triad - what is it?

Dx and Tx

A

Hutchinson’s triad: peg shaped teeth, keratitis, sensorineural hearing loss

Syphilis

Dx: PCN

63
Q

cataracts

heart disease

blueberry muffin skin

microcephay

A

congenital rubella

64
Q

MC congenital viral infection

sensorineural hearing loss

A

cytomegalovirus

65
Q

Acute rheumatic fever criteria

A

JONES

Joints
Oh, no carditis
Nodules
erythema marginatum
sydenham's chorea

Peds (7 decks)

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