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Flashcards in Falcon Review Pediatrics 5 Deck (121):
1

How do environmental factors affect birth defects

10% of all birth defects or due to environmental factors

may be infectious agents, high-dose radiation, maternal metabolic disorders, mechanical forces in drugs

2

How does the time of the environmental factor affects birth defects

Before 12 weeks gestation: organogenesis, tissue morphogenesis defects

greater than 12 weeks gestation: retards fetal growth and tissue morphogenesis

3

Describe fetal alcohol syndrome

Alcohol is the most common major teratogen

signs and symptoms:
1. mental retardation
2. facies:
– microcephaly
– smooth philtrum
– maxillary hypoplasia
– short palpebral fissures
– epicanthal folds
3. cardiac anomalies

4

what is the most common cause of single gene disorders

Sporadic mutations

5

Discuss trisomy 21

Most common genetic form of mental retardation

signs and symptoms:
1. Facies:
– flat occiput
– up slanting palpebral fissures
– inner epicanthal folds
– brushfield spots
– protruding tongue
2. Hypotonia
3. Mental retardation
4. Clinodactyly, Simian crease
5. Endocardial cushion defects
6. Duodenal atresia

6

Discuss trisomy 18

Signs and symptoms:
gross deficiency
mental retardation
prominent occiput, low set ears, micrognathia
clenched hands with overlapping fingers, rocker bottom feet,
cardiac defects and > 50% – most commonly VSD

7

what is the inheritance and mutation for Marfan syndrome

Autosomal dominant

defect in gene for fibrillin-1

8

one of the signs and symptoms of Marfan syndrome

1. tall stature, arachnodactyly, long limbs, hyper mobile joints
2. Kyphosis, pectus excavatum/carinatum
3. Lens subluxation
4. Cardiac anomalies: aortic dilation/dissection

9

What is fibrillin

Glycoprotein that is essential for the formation of elastin fibers formed in connective tissues

10

What are the signs and symptoms of Turner syndrome

Short stature
gonadal dysgenesis (streak ovaries)
congenital lymphedema, broad chest, wide spaced nipples, low posterior hairline, webbed neck
cardiac anomalies: bicuspid aortic valve, coarctation most common

11

What is the treatment for Turner syndrome

Estrogen replacement
growth hormone

12

What are the signs and symptoms of Klinefelter syndrome

47 XXY

hypogonadism, infertility
low IQ
behavior problems
tall, slim, long limbs
gynecomastia

13

What is the treatment for Klinefelter syndrome

Testosterone replacement

14

What is the cause of fragile X syndrome

Mutation in the FM R1 gene (due to CCG tri-nucleotide repeats)

15

what are the signs and symptoms of fragile X syndrome

Large testicles, prominent jaw, protruding ears

Autistic features
– stereotypical behavior (hand flapping) and speech

16

What is genomic imprinting

Genes may be expressed differently depending on if they were inherited from the mother or the father

17

what is the defect with Prader Willi

Loss of paternal genetic material in location 15 Q

– loss of maternal material in the same location causes Angelman syndrome

18

what are the signs and symptoms of Prater willi

infant:
– failure to thrive
– hypotonia
– poor suck
– difficulty feeding
– weak cry
– genital hypoplasia

child/adolescent:
– mental retardation
– obesity
– hyperphagia

physical features:
– narrow bifrontal diameter
– almond eyes
– small, downturned mouth

19

What is Beckwith Weidmann

Duplicated chromosome 11
pancreatic B cell hyperplasia and excess availability of insulin like growth factor

20

What are the signs and symptoms of Beckwith Weidman

Macrosomia, macroglossia,
prominent occiput and eyes
Omphalocele
Visceromegaly
hypoglycemia

21

Discuss the pathophysiology of infants born to diabetic mothers

Maternal hyperglycemia causes fetal hyperglycemia which leads to hyperinsulinemia which functions to promote growth

22

What are the signs and symptoms of an infant born to a diabetic mother

Polycythemia
large for gestational age
hypoglycemia
jaundice
respiratory distress syndrome
hypertrophic cardiomyopathy
cardiac anomalies (VSD, AST, transposition)
Lumbosacral agenesis

23

Discuss Pierre Robin sequence

Sequence of:
1. Arrest in mandibular development during week 7-11 weeks of gestation
2. Underdevelopment of the jaw
3. Abnormal displacement of tongue
4. Cleft palate

24

What are the signs and symptoms of Pierre Robin sequence

Micrognathia
glossoptossis
cleft soft palate
poor feeding
speech delay
otitis media

30% will require tracheostomy until airway reaches adequate size
by age 4 or five, most children have normal profile as mandible catches up

25

What is the defects with Ehlers Danlos syndrome

Autosomal dominant defect in collagen synthesis; 10 subtypes
– type IV is associated with decrease in type III collagen and is associated with arterial rupture in visceral perforation

26

What are the signs and symptoms of Ehlers Danlos syndrome

Hyper extensible joints, poor wound healing
cardiac anomalies: MVP is common
blue sclera

27

What is the defect in phenylketonuria

Autosomal recessive defect in hydroxylation of phenylalanine to tyrosine

28

What are the signs and symptoms of phenylketonuria

Initially normal with complete presentation in first few months
– fair-haired, fair skinned, blue eyes
– eczematous rash
– urine with musty odor
– vomiting
– severe mental retardation if untreated

29

How is phenylketonuria diagnosed

Newborn screening with high-level phenylalanine and normal level of tyrosine

elevated urine levels of phenylalanine metabolites (Guthrie test is qualitative/color change test for urinary metabolites)

30

What is the treatment for phenylketonuria

Diet low in phenylalanine

31

What are the signs and symptoms of a deficiency of galactose-1-phosphate uridyl transferase

Accumulation of galactose-1-phosphate

jaundice
vomiting
hypoglycemia
cataracts
hepatomegaly
poor weight gain

32

What are the signs and symptoms of a deficiency in galactokinase

Cataracts

33

What is the defect associated with Lesch Nyhan syndrome

X-linked disorder of purine metabolism (deficiency of hypoxanthine guanine phosphoribosyl transferase leads to hyperuricemia)

34

What are the signs and symptoms of Lesch Nyhan syndrome

Overproduction of uric acid, neurological disability, behavior problems

– delayed motor development
– extrapyramidal signs
– self injury

35

How is Lesch Nyhan syndrome diagnosed

HGPRT enzyme analysis

36

What is the treatment for Lesch Nyhansyndrome

Allopurinol
behavior modification

37

What is the defect associated with Wilson disease

Autosomal recessive degeneration of basal ganglia/liver characterized by increased copper deposition

38

What are the signs and symptoms of Wilson's disease

Kayser Fleisher rings
childhood: hepatic
– hepatomegaly, hepatitis or hepatic failure
adolescents: neuropsychiatric
– tremors, dysarthria, choreoathetosis, psychiatric symptoms, hepatomegaly

39

What are the steps to diagnosed Wilson's disease

Low ceruplasmin (copper binding protein) level, elevated hepatic copper concentration

CT scan: hypo-denselesions in basal ganglia

40

What is the treatment for Wilson's disease

Reduce copper intake
increase copper excretion (penicillamine)

fatal if untreated

41

What is the VATERAssociation

V – vertebral (hypoplastic or hemi)
A – anorectal (imperforate anus)
T – Tracheoesophogeal fistula (up to 70%)
R – renal/radial

C – cardiac (up to 75%-most common VSD, ASD, TOF)
L – Limb

42

What are the risk factors for toxoplasmosis

Undercooked meat
infected cat feces

43

What are the signs and symptoms of toxoplasmosis

Intracranial calcification
hydrocephalus
Courier retinitis/retinopathy
jaundice
hepatosplenomegaly

– infections early in the first trimester are less common but more serious

44

What is the treatment for toxoplasmosis

pyrimethamine

45

What is the treatment to a neonate born to hepatitis B positive mother

Infants should receive both hepatitis B immuno globulin and vaccine ASAP after delivery

46

What are the signs and symptoms of syphilis

Fetal or perinatal death and 40% of cases

early stage (before two years):
– fever, anemia, failure to thrive, maculopapular rash (palms/souls), thrombocytopenia, hepatosplenomegaly, periostitis of long bones

late stage:
– skeletal (Sabre shin, Hutchison teeth, saddle nose)

47

what are the steps to diagnose syphilis

VDRL, RPR for screening

FTA – ABS for confirmation

48

What is the treatment for syphilis

Penicillin

49

What are the signs and symptoms of the rubella infection

IU GR
cataracts
mental retardation
microcephaly
cardiac defects (PDA, PS)
hepatosplenomegaly,
deafness,
blueberrymuffin rash

50

What is the most common congenital infection

Cytomegalovirus

51

What are the signs and symptoms of a cytomegalovirus infection

IUGR
prematurity
petechiae from thrombocytopenia
hepatosplenomegaly
jaundice
hearing loss
choreoretinitis
microcephaly
PERIVENTRICULAR calcification

52

What are the complications associated with the cytomegalovirus infection

mental retardation
seizure
HEARING LOSS
visual defects

53

What is a treatment for cytomegalovirus

Ganciclovir

54

What are the signs and symptoms of a HSV congenital infection

Local (skin, eyes, mouth): 5–14 days

disseminated (liver and lungs): 5-7 days

CNS (lethargy, seizures): 3-4 weeks

55

What is the treatment HSV

Acyclovir

56

what is a cephalohematoma


Subperiosteal bleed: may not be present at birth
does not cross sutra lines

57

What is caput succedaneum

Scalp swelling (usually presenting part)
crosses suture lines
caused by pressure exerted during labor and delivery

58

Define subcutaneous fat necrosis and defined the causes

Palpable rubbery firm nodules
associate with difficult labor and delivery including forceps or vacuum delivery
most resolve spontaneously

59

What aretwo types of brachial nerve injury during labor and delivery

Erb Duchenne paralysis
Klumpkeparalysis

60

What is the cause of presenting condition with an ErbDuchenne paralysis

C-5 C6: arms adducted and pronated with wrist and finger flexion (waiters tip)

61

what is the cause and presenting condition with Klumpke's paralysis

C7- T1: flexion and supination of the elbow with wrist extension finger flexion "claw hand"

may have ipsilateral Horner's syndrome if are njured

62

What the two types of facial nerve palsy

Affected side of face does not move with cry
1. Peripheral:
– affected for head side does not move
2. Central:
– for headmovement is preserved

63

What is the most commonly fractured bone during delivery

Clavicular

64

What are the risk factors for clavicular fracture

Large babies
shoulder dystocia

65

What are the signs and symptoms of clavicular fracture

Asymmetric more reflects (affected side won't move)
healing callus may be palpated

66

What is the treatment for neonatal conjunctivitiscaused by Chlamydia trachomatis

Oral erythromycin
use oral to prevent possible pneumonia

67

How do you differentiate between Chlamydia trachomatis and gonococcus regarding time of onset

Chlamydia trachomatis occurs 5-14 days after delivery

gonococcus occurs 2 to 5 days after delivery

68

What is the treatment for neonatal gonococcus conjunctivitis

Cefotaxime

69

What is choanal atresia

Septum between the nose and the effects: associated with CHARGE syndrome

70

What is CHARGE syndrome

C – coloboma
H – heart disease
A – atresia choanae
R – retarded growth/development
G – genital anomalies (hypogonadism)
E – ear anomalies (deafness)

71

The signs and symptoms of a choanal atresia

Bilateral obstruction may present as cyanosis relieved by crying (infants are obligate news breathers)

72

What is the treatment for choanal atresia

Surgical correction

73

What is the treatment for a cleft lip and cleft palate

Lip repaired shortly after birth
palates repaired 12 to 24 months after birth

74

What is congenital torticollis

Injury to the sternocleidomastoid muscle during delivery, usually treated with stretching exercises

75

What are branchial cleft cyst

Unilateral incomplete closure of the branchial clefts, can become infected

76

What are thyroglossal duct cysts

Midline, moves when patient moves there tongue
painless
remove surgically

77

What is a cystic hygroma

benign, multiloculated growth of lymphatic tissue
– seen inTurner syndrome

78

What are the TORCH infections

T – toxoplasmosis
O – other (syphilis, varicella)
R – rubella
C – CMV
H – HSV/HIV

79

What is considered small for gestational age

Birth weight below the 3rd percentile

80

What are the types of IUGR

Symmetric (weights, length, head circumference are equally affected)

asymmetric (sparing of head circumference)

81

What are the causes of IUGR

Fetal: symmetric
– chromosomal/congenital disorders; TORCH infections

placental: asymmetric
– decreased weight, infarction, separation, twin-twin transfusion

maternal:
– toxemia, hypertension, malnutrition, tobacco, alcohol, narcotics

82

Where the complications for small for gestational age

Fetal deaths, asphyxia, cold stress, hypoglycemia, polycythemia/hyper viscosity

83

What are the most frequent drugs that are used during pregnancy that cause withdrawal in neonates

Heroin
methadone

84

What are the signs and symptoms of neonatal abstinence syndrome

Hyperactivity
irritability
fever
diarrhea
trimmers/jitters
high-pitched crying
sneezing
vomiting
nasals stuffiness
poor feeding
seizures
tachypnea

85

What is the treatment for neonatal drug withdrawal

Narcotics (tincture of opium)
sedatives (phenobarbital)
reduction of noxious stimuli (calm, and dark, quiet environment)

86

What is the timeframe for neonatal abstinence syndrome to set in for heroin or methadone

Heroine– 48 hours
methadone – 2 to 6 weeks

87

what is the problem with cocaine exposure during pregnancy

Increased risk of preterm labor and placental abruption

complications include:
low birth weight
cerebral infarcts
intraventricular hemorrhage

88

What is respiratory distress syndrome

Hyaline membrane disease

surfactant deficiency resulting in atelectasis and ventilation-perfusion mismatch
– almost exclusively in premature's less than 30 weeks

89

What is the signs and symptoms of respiratory distress syndrome

Respiratory distress soon after birth
– tachypnea
– nasal flaring
– retractions
– cyanosis
– grunting

90

What will a chest x-ray demonstrated for hyalinemembrane disease

ground glass
air bronchograms

91

Discuss meconium aspiration

Aspiration of meconium stained amniotic fluid at delivery leading to chemical pneumonitis

signs and symptoms:
– term infants and more commonly postdate infants
– perinatal fetal distress (causing passage of meconium)
– reported meconium stained amniotic fluid

92

What will a chest x-ray demonstrate for meconiu aspiration

Patchy infiltrates

– hyaline membrane disease will show ground-glass appearance
– transient tachypnea of the newborn will show luid

93

What isthe complications associated with meconium aspiration

Persistent pulmonary hypertension
meconium pneumonitis can lead to persistent pulmonary hypertension
pneumonia

94

what are the effects of persistent pulmonary hypertension

Hypoxia
shunting
high right-sided heart pressures
abnormally opened foramina ovale and ductus arteriosus

95

What is the treatment for persistent pulmonary hypertension

Sedation and mechanical ventilation
Inhaled nitric oxide (pulmonary vasodilator)
ECMO (extra-corporeal membrane oxygenation)

96

What is a diaphragmatic hernia

Failure of the diaphragm to develop which causes abdominal contents to enter the chest and will lead to pulmonary hypoplasia on affected side

97

What are the signs and symptoms of the diaphragmatic hernia

Respiratory distress
scaphoid abdomen
bowel sounds in chest
associated with polihydramnios

98

What should be avoided with a diaphragmatic hernia

Bag valve mask ventilation

99

What is the treatment for a diaphragmatic hernia

Gastric decompression
intubation
surgical correction

100

What is the most common type of Tracheoesophogeal fistula

85% have the atretic esophagus and fistula between trachea and distal esophagus

– allows air and stomach and small intestine
– abnormal development of forgot

101

What are the signs and symptoms of the tracheoesophageal fistula

Coughing, frothy or bubbly secretions
difficulty feeding
excessive saliva/drooling
choking with swallowing
associated with polyhydramnios
sinuses

102

Discuss jaundice

Deposition of bilirubin in the skin

maybe physiologic or pathologic, conjugated or unconjugated

JAUNDICE in first 24 hours is always pathologic

103

Discuss physiologic jaundice

Appears after first day, is unconjugated, and usually resolves by one week

related to immature function of glucoronyl transferase in newborns

104

Discuss breast-feeding jaundice

Refers to jaundiced with poor intake
all indirect
early (first 3 to 5 days, not on day one)
slight dehydration, few stools, milk not in

105

Discuss breast milk jaundice

Thought to be related to breast milk inhibiting glucoronyl transferase
all indirect
later, 1-2 weeks

106

Discuss Rh and ABO incompatibility

– mom is Rh negative and baby is Rh positive

– type O blood from mother and infant is A, B, or AB

107

Discuss biliary atresia

– Conjugated hyperbilirubinemia that may not be present until two weeks (not present at birth)
– early diagnosis is essential-all infants jaundiced at three weeks need screening
– Clay colored acholic stools associated with polysplenia

108

What is the purpose of the coombs test

Test for ABO incompatibility

109

What arethe complications of excess bilirubin

Unconjugated: neurotoxicity, kernicterus (choreoathetosis and hearing loss)

conjugated: liver failure if cause not corrected (biliary atresia)

110

What are the causes for neonatal sepsis

Group B streptococcus
E. coli
Listeria

111

What are the risk factors for neonatal sepsis

Maternal infection
prematurity
prolonged rupture of membranes

112

What are the signs and symptoms of neonatal sepsis

Crunching
tachypnea
cyanosis
poor feeding
irritability
apnea
bradycardia
tremors
seizures

113

What is the treatment for neonatal sepsis

ampicillin and a third-generation cephalosporin

Ampicillin for listeria

third-generation cephalosporin/aminoglycoside for the rest

114

What is thecause of an umbilical hernia

Incomplete closure of Foshee, associated with diastasis recti
usually close spontaneously by age 5

115

What is omphalocele

Herniation of peritoneum and abdominal contents into umbilical base through umbilical ring

– Bowel covered (amnio/peritoneal membrane)
– herniates through umbilical ring
– ASSOCIATED with other anomalies

116

What is gastroschchisis

Herniation without a sack to the right of the umbilicus

– bowel not covered
– herniates to the right of the umbilicus
– typically NOT associated with other anomalies

117

What is the most, medical and surgical emergency and a newborn

Necrotizing enterocolitis
– 90% occur in preterm infants
– usually first two weeks of life and related to introduction of feeds

118

What are the signs and symptoms of necrotizin enterocolitis

Bloody stools
apnea
lethargic
abdominal distention

119

What will a abdominal x-ray demonstrate for necrotizingenterocolitis

Pneumotosis intestinalis, portal venous gas, intestinal perforation

120

What is the treatment for necrotizing enterocolitis

Medical treatment: cessation of feeds, got decompression, systemic antibiotics, supportive care

surgical treatment: resected necrotic bowel

121

Discuss a malrotation/volvulus

Abnormal posterior fixation of the mesentery
at risk for twisting on its vascular supply

signs and symptoms:
Bilious emesis in the neonatal period

treatment: surgical correction