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Flashcards in Pediatrics Deck (141):
1

At what point should an infant have regained her birthweight after initial weight loss?

What about at 4 months, 12 months, and 24 months?

2 weeks

double by 4 months
triples at 12 months
quaduples at 24 months

2

How much weight should a child gain per year?

from 2-13 years, weight gain is about 5 pounds per year

3

inadequate weight gain

poor food intake
chronic vomiting or diarrhea
malabsorption
neoplasm
congenital diseases

4

failure to thrive

weight

5

Complications of obesity

rapid growth
sleep apnea
HTN
SCFE
precocious puberty
increased incidence of skin infections
social dysfunction
earlier development of 2DM

6

Height, or birth length at 1 year, 4 years, 13 years

1 year: increased by 50%
4 years: double
13 years: triple
2-13year: 2 inches/year

7

Greater-than-normal height

familial tall stature
precocious puberty
gigantism
hyperthyroidism
klinefelter syndrome
Marfan syndrome
obesity

8

lower-than-normal height

familial short stature
neglect
constitutional growth delay
asthma
CF
TUrner
IBD
immunologic disease
growth hormone deficiency
hypothyroidism
glucocorticoid excess
skeletal dysplasia
neoplasm

9

Macrocephaly

Cerebral metabolic diseases:
-Tay-Sachs
-Maple syrup urine disease

Neurocutaneous syndromes
-neurofibromatosis
-tuberous sclerosis

Hydrocephalus
increased intracranial pressure
skeletal dysplasia
acromegaly
intracranial hemorrhage

10

Microcephaly

fetal toxin exposure- fetal alcohol syndrome

chromosomal trisomies
congenital infections
cranial anatomic abnormalities
metabolic disorders
neural tube defects

11

how to address growth defects

treat underlying disorder
intervention in abuse cases
parent education
thorough family history

12

developmental milestones during childhood: 2 months

social smile
lefts head 45 degrees
eyes follow object to midline
isn't talking but can coo

13

developmental milestones during childhood: 4 months

laughs
is aware of caregiver
localizes sound
lifts head to 90 degrees when on stomach
fine motor- can follow an object with eyes past midline

14

developmental milestones during childhood: 6 months

differentiates parents for others
stranger anxiety
grasps objects, or rakes objects toward self
attempts to feed self
babbles

15

developmental milestones during childhood: 9 months

interactive games
separation anxiety
crawling, pulls to stand

16

developmental milestones during childhood: 12 months

taking first steps
pincer grasp
makes 2-block tower
5-10 word vocabulary

17

developmental milestones during childhood: 18 months

parallel play
walks well
walks backward
tower of 4 blocks
can use a cup and spoon

18

developmental milestones during childhood: 2 years

dresses self with help
runs
climbs stairs
gender identity around 2-3 years old (around time of potty training)

6 block tower
50-75 words; 3-word sentences

19

developmental milestones during childhood: 3 years

magical thinking
climbs/descends stairs
makes a tower of 9 blocks
draws a circle

20

developmental milestones during childhood: 4 years

plays with others
hop on 2 foot
draws a line image
and a closed figure (triangle, square)
250 or more words

21

developmental milestones during childhood: 6 years

skips
can draw a stick figure person

22

When do infant reflexes disappear?

by 6 months

after this, suggestive of CNS abnormalities esp in context of
perinatal complications

23

rooting reflex

rubbing the cheek causes turning the cheek towards the stim

24

Tonic reflex

face turns, arm on face side extends and other arm flexes

25

placing reflex

rubbing dorsum of foot causes that foot to step up

26

Anticipatory guidance:
newborn to 1 week

sleep on back to prevent SIDS
"back to sleep" campaign

baby does not need to bath every day

27

Anticipatory guidance:
4-6 months

begin feeding solid foods

usually first food is iron- fortified cereal

28

Anticipatory guidance:
12 months

can introduce cow's milk
before 12 months, hemorrhage in the gut is more likely

29

When do kids start seeing the dentist?

2-3 yo
if cavities have begun, then go to the dentist with six months of first tooth eruption
unless there are risk factors (brushing less than once a day, caregivers with lots of cavities, etc.)

30

Anticipatory guidance:
2-3YO

can start seeing dentist

31

Anticipatory guidance:
3yo

regular sleep schedule
television limitation

32

when do you see kids for wellchilld visits?

2 days
2 weeks
1 month
2 months
4 months
6 months

every 3 months from 6-18 months

every year after 2 years old

33

how many DTaP vaccines does a kid get?

5

34

how many Hib vaccines does a kid get?

4

35

how many PCV vaccines does a kid get?

4

36

When do you give HepB vaccine?

at birth

37

When do you give Tdap vaccine?

11-12 yo

38

When do you give meningococcal vaccine (MCV4)

at 11-12 years, with a booster at 16yo

39

when do you give HPV vaccines? there are 3

11-12 yo to males and females both

40

when do you give flu vaccines?

annually
>6 months

41

appropriate use of car seats

42

How many calories are present in an ounce of breast milk? How many calories are present in an ounce of formula?

20 kcal/ounce

breast milk is designed to be this way

43

What are the caloric needs for an infant younger than 6 months?

100-120 kcal/kg/day

44

What work-up should be performed on a newborn with a single umbilical arter?

occurs in about 0.5% of births and 20-30% of these infants have major structural anomalias

Work this up with renal ultrasound, as 7% will have clinically significant (but asymptomatic) renal anomalies

45

What are the most common problems that arise in premature infants?

respiratory distress syndrome (RDS)
hypoglycemia
persistent PDA
infection/sepsis
retinopathy of prematurity
intraventricular hemorrhage
necrotizing enterocolitis

in a NICU, these are the things you would try to treat and prevent

46

caput succedaneum

edema in the scalp
crosses the midline and diminishes after a few days

47

cephalohematoma

subperiosteal hemorrhage
edema does not cross suture lines
resolves in weeks to months

more likely with vacuum deliveries, increased risk of jaundice as blood breaks down

48

bloody vaginal discharge in a the first few days of life

withdrawl of hormones leads to menstruation. there is nothing to do about this

49

cutis marmorata

spider webbing or marbling of the skin
not concerning

50

erythema toxicum neonatorum

2-3 mm yellow pustule with red base

similar in appearance to a whitehead

arising in the first 24-72 hours of life, microscopic examination of the pustular contents (not necessarily for diagnosis), reveals numerous eosinophils, that are usually gone by 3 weeks.

Tell the parents to leave this alone

51

Harlequin color change

intense reddening of gravity- dependent side and blanching of the nondependent side with a line of demarcation between the two, lasts a few seconds-minutes, affects 10% of newborns (more common in newborns), most common in first few days of life, may be due to immaturity of autonomic innervation to skin vessels. Completely benign and will resolve in days to 3 weeks.

52

macular stains (stork bites)

permanent vascular malformations, commonly at the nape of the neck, but also at upper eyelids and middle forehead

Benign but permanent.

53

Milia (or miliaria)

sweat accumulated beneath eccrine sweat ducts

obstructed by keritin at stratum corneum

usually develops in the first week after birth, with excess clothing or fever

54

Mongolian spots

benign,
will fade in 1-2 years

55

Neonatal acne

20% of infants
onset around 3 weeks of age
mild lesions should be left alone and will resolve in about 4 months

severe inflammation managed with retinoids, or benzoyl peroxide

56

infantile acne

different than neonatal acne, onset usually at 3-4 months of age, yellow papules around nose and cheeks, usually clear by age 1, but may persis until age 3. Severe inflammation can be managed with benzoyl peroxide or topical retinoids

57

transient neonatal pustular melanosis

Superficial pustules overlying hyperpigmented macules.
Tell parents to leave these alone

58

what medications can be used to treat thrush in infants?

you can't swab it off (unlike milk)

Treat:
nystatin oral suspension for a couple of weeks

59

What are the risk factors for sudden infant death syndrome (SIDS)?

Usually occurs at 2-4 months old
Usually occurs while infant is sleeping

Maternal risk factors: low socioeconomic status, age

60

Anterior fontanelle- when should it close? what would you suspect if it did not close?

closed in 1% by age 3 months
38% by 12 months
96% by 24 months

If closure is delayed, consider Down syndrome, achondroplasia, rickets, congenital hypothyroidism, and increased intracranial pressure

If closure

61

Adolescence

a period of rapid, physical, psychosocial, and sexual growth and maturity leading into adulthood

from 10-19 yo

before this, would be considered precocious puberty

62

Early adolescence: age 10-13
psychosocial

concrete thinking
early independent behavior

63

middle adolescence: 14-16
psychosocial

emergency of sexuality
increased desire for independence
self- absorption
development of abstract thought

64

late adolescence (age 17-21)

increased self awareness
increased confidence in own abilities
open relationship with parents
cognitive maturity

65

Adolescents are more likely to exhibit...

risk-taking behavior:
-drug use
-unprotected sexual activity
-violence

accidents are the number cause of death in teenagers

depression
suicidal ideation
homicide
eating disorders

66

What should you ask an adolescent?

Stress right to confidentiality

SHADESSS

Strengths (you are an advocate)
Home environment
Activities
Drugs and alcohol
Education and employment
Sexual activity
Suicide (or depression)
Safety

focus the exam on derm issues, sexual maturation,
height and weight growth, and examine boys for scrotal masses, HTN, HLD, obesity, DM

67

2-3 mm yellow pustule with red base, looks like a whitehead, arising in the first 24-72 hours, microscopic examination of the pustular contents (not necessary for diagnosis) reveals numerous eosinophils, usually gone by 3 weeks

erythema toxicum neonatorum

68

spider-webbing/marbling of skin

cutis marmorata

69

intense gravity- dependant reddening and blanching of nondependent side with a line of demarcation lasting a few seconds- minutes

Harlequin color change

70

Due to accumulation of sweat beneath eccrine sweat ducts that are obstructed by keratin at the stratum corneum

milia

71

What do you give to enhance fetal lung maturity? How long do you give it for? at what age do you no longer need to give it?

Corticosteroids:
betamethasone
dexamethasone

given for 48 hours

recommended up to 34 weeks gestation

72

clinical features of measels infection?

Prodrome for 2-3 days: fever, malaise, anorexia, and 3 C's (cough, coryza, conjunctivitis)

coryza is nasal congestion and inflammation

Then, after 1-2 days you'll see Koplik spots on the buccal mucosa and palate, that appear 48 hours before the rash

Rash begins 5 days after onset of prodrome, starting at the head and spreading to the feet, lasts 4-5 days, then resolves from the head down

Treat: supportive therapy and vitamin A
ribavirin

73

What is the treatment for measles in detail?

Supportive therapy (antipyretics, fluids)
Monitoring and treating bacterial superinfections such as pneumonia or otitis media

Vitamin A
-100,000 IU PO x1 in 6-12 mo
200,000 IU PO x1 if older than 12 months

-WHO recommends vitamin A to all children with measles in areas where vitamin A deficiency is prevalent and measles mortality exceeds 1%

-AAP recommends vitamin A given as above to children 6 months-12 years hospitalized for measles or its complications, or if immunodeficient or high likelihood of vitamin A deficiency (opthalmoplegic evidence, intestinal malabsorption, malnutrition or recent immigration from an area with high measles mortality)

Ribavirin is not well studied and not currently standard of care for measles, despite that it harms measles virus in vitro

74

What are the classic features of rubella virus (German measles)?

-low-grade fever, lymphadenopathy, and rash

-prodromal malaise, fever, anorexia for 1-5 days prior to rash

-lymphadenopathy involving suboccipital and posterior cervical nodes

The rash, about 5 days, is erythematous, tender, maculopapular,
unlike measles, it does not darken or coalesce

The fever is milder and shorter (only 1 day) than measles

polyarthritis may be seen for up to a month in women and adolscents

75

What are the characteristic features of Coxsackie hand, foot, and mouth disease

-constitutional fever and anorexia
-oral vesicles on the buccal mucosa and tongue
-small, tender, maculopapular/vesicular rash on the hands, feet, and sometimes buttocks

duration is typically 3-5 days without complications

76

what are the signs and symptoms of scarlet fever cause by strep. pyogenes?

rash that is
-coarse ("sandpaper-like"), erythematous and blanching ("sunburn-like")

-starts on the trunk then generalizes but spares the palms and soles

-most prominent in the skin creases of axilla and groin (Pastia's lines/sign)

-strawberry tongue, beefy-red pharynx, cervical LAD

-fever/chills

later, desquamation of hands and feet

distinguished from Kawasaki bu positive throat culture or rapid strep test

77

Roseola infantum- characteristic symptoms

sudden, high fever (exceeding 102 F) for 3-4 days

child has no other signs of infection and often acts/plays normally

Then as the fever starts to dissipate, the patient gets a rash on the trunk/ entire body, that is usually gone within 24 hours

Other common findings: erythematous papules on soft palate and uvula, mild cervical LAD, edematous eyelids, bulding anterior fontanelle in infants.

Treatment: antipyretics as needed to lower the fever

78

What is the differential diagnosis for cervical lymphadenitis in a child?

if acute and bilateral- usually viral
-URIs rhinovirus, adenovirus, influenza, group A streptococcus
Mono: EBV, CMV, mycoplasma
Other viruses: HIV, HSV

If acute and unilateral- usually bacterial (s. aureus, group A strep > anaerobes, GBS)

If chronic and unilateral:
-bartonella henselae- cat scratch fever
-toxoplamosis
-TB- scrofula
-actinomyces israelii- sinuses drain pus

Noninfectious causes (much less common): Kawasaki disease, Hodgkin lymphoma

79

PFAPA syndrome

benign, recurrent 4-5 day syndrome consisting of Periodic Fever, Aphthous ulcers, Pharyngitis, and Adenitis

-occurs monthly (every 28 days)
-exclusion criteria include neutropenia, cough, coryza, diarrhea, severe abdominal pain, rash, arthritis, neuro defects

usually affects preschool- aged children (2-5 yo), usulaly goes away before age 10

benign, self- limiting disease
treatment:
-glucocorticoids relieve symptoms in a matter of hours
-cimetidine may be used for prevention of episodes, but is of questionable efficacy

-average duration of recurring symptoms is 4.5 years

80

Pertussis (whooping cough)

1. Incubation (7-10 days)
2. Catarrhal stage (7-10 days): mild URI symptoms
3. Paroxysmal stage (1-6 weeks): paroxysms of cough with inspiratory whoop that is worse at night and often with post-tussive emesis and exhaustion
-often confused with acute bronchitis
4. Convalescent stage (2-3 weeks): waning symptoms

Treatment:
supportive care
antibiotics
-azithromycin (5 days)
shorter course, and erythromycin/clarithromycin contraindicated before 2 months

-erythromycin (14 days)
-clarithromycin (7 days)
TMP-SMX (14 days)

prophylaxis for close contacts (full course of one of the above antibiotics)

isolation from school/day care until 5 days of antibiotics have been completed, or 3 weeks after onset of symptoms in untreated patients

hospital admission (with isolation) indications for children with pertussis:
-respiratory distress
-PNA
-inability to feed
-cyanosis or apnea (with or without coughing)
-seizures

81

what additional work-up is needed in a child diagnosed with UTI?

renal and bladder ultrasound (RBUS)
-child 2 febrile UTIs
-child any age with first febrile UTI and family history of urologic disease, poor growth, or HTN

82

Immunodeficiency disorders- overall clues

recurrent infections after 3 mos

83

Thymic aplasia (DiGeorge syndrome)

3rd and 4th pouches fail to develop
-no thymus means no mature T cells

no parathyroids means hypocalcemia, leading to tetany

Recurrent viral, fungal, and protozoal infections

Congenital defects in heart/great vessels

90% have a chromosome 22q11 deletion (detect with FISH)

84

Chronic mucocutaneous candidiasis

T cell dysfunction vs c. albicans

Treatment: antifungals (ketoconazole, fluconazole)

85

Bruton agammaglobulinemia

-X- linked (boys)
-B-cell deficiency- defective tyrosine kinase gene- low levels of all immunoglobulins
-Recurrent bacterial infections after 6 months
-No B cells on peripheral smear

86

Selective IgA deficiency

MC selective immunoglobulin deficiency. IgA is found in mucus to protect the respiratory tract
-most appear healthy
-recurrent sinus infections
-recurrent lung infections
-1/600 people of European descent
-associated with atopy and asthma
-There isn't much you can do but provide antibiotics when there is an infection. It is important to diagnose this condition, as there is possible anaphylaxis to blood transfusions and blood products.

87

Severe combined immunodeficiency (SCID)

-Defect in early stem cell differentiation
-Can be caused by at least seven different gene defects:
-adenosine deaminase deficiency is the most high- yield one to know

Last defense is NK cells

Presentation triad:
1. Severe recurrent infections
-chronic mucocutaneous candidiasis
-fatal or recurrent RSV, VZV, HZV, measles, flu, parainfluenza
3. pneumocystis jirovecii (PCP) pneumonia

2. chronic diarrhea
3. failure to thrive

Radiology:
no thymic shadow on newborn chest x-ray

Do not give these patients live attenuated vaccines

88

Ataxia- telangiectasis

IgA deficiency and T cell deficiency- sinus and lung infections

Cerebellar ataxia and poor smooth pursuit of moving target with eyes

Talengiectasias on the face (after 5 years old)
Radiation sensitivity (try to avoid x-days)
Increased risk: lymphoma and acute leukemias
+/- elevated AFP (After 8 months of age)
average age of death: 25 years

ATAXIA:
Ataxia
Telangiectasia
Acute leukemia/lymphoma
X-ray sensitivity
IgA deficiency
AFP

89

Wiskott-Aldrich Syndrome

WAITER
Wiskott
Aldrich
Immunodeficiency
Thrombocytopenia and purpura
Eczema
Recurrent pyogenic infections

X- linked

90

Chronic granulomatous disease (CGD)

X-linked inheritance (65-70%)
Lack of NADPH oxidase- phagocytes cannot destroy catalase-positive microbes

Especially susceptible to
S. aureus and
aspergillus infections

Diagnosis: negative nitroblue tetrazolium (NBT) test:
-NO yellow to blue-black oxidation (phagocytes don't generate oxygen free- radicals)

Treatment:
-prophylactic TMP-SMX and itraconazole
-IFN-gamma also helpful

91

Chediak- Higashi syndrome

defective LYST gene (lysosomal transport)- can't get enzymes int olysozomes

defective phagocyte lysosomes- giant cytoplasmic granules in PMNs are diagnostic

presentation triad:
-partial albinism
-recurrent respiratory tract and skin infections
-neurologic disorders

92

Hyper IgE syndrome (Job syndrome)

Mutation in the gene for STAT2 signaling protein, leading to
-impaired differentiation of Th17 cells
-impaired recruitment of neutrophils

High levels of IgE and eosinophils

Presentation triad:
-eczema
-recurrent cold S. aureus abscesses (think of biblical Job with boils)- normal inflammation would make it warm
-coarse facial features: broad nose, prominent forehead ("frontal bossing"), deep-set eyes, and "doughy" skin
-common to have retained primary teeth, resulting in 2 rows of teeth

93

Leukocyte adhesion deficiency syndrome

abnormal integrins- inability of phagocytes to exit circulation

recurrent bacterial infections
delayed separation of umbilical cord

94

desquamation of hands and feet

scarlet fever
Kawasaki disease
toxic shock syndrome
SJS
acrodynia (2/2 mercury poisoning)

95

congenital heart defect+ low calcium+ recurrent infections

DiGeorge syndrome

96

chronic mucocutaneous candidiasis+ chronic diarrhea+ failure to thrive

SCID

97

negative nitroblue tetrazolium test

chronic granulomatous disease

98

poor smooth pursuit of eyes + elevated AFP after 8 months

ataxia telangiectasis

99

partial albinism+ recurrent URIs+ neurological disorders

Chediak-Higashi syndrome

100

best choice for septic shock

NE

101

best choice for cardiogenic shock

dobutamine

102

causes vasoconstriction but with bradycardia

phenylephrine

103

4 most common brain tumors in adults

Mets
glioblastoma
meningioma
schwannoma
(MGM studies)

104

3 most common brain tumors in children

Astrocytoma
Medulloblastoma
Ependymoma

105

Turner syndrome

webbed neck
short stature
infertility
abnormal genital formation
renal defects
cardiac defects- coarctation of aorta
craniofacial abnormalities
45XO karyotype
MCC primary amenorrhea

Labs: karyotype

Treatment:
-CV assessment
-Estrogen and progestin replacement
-growth hormone

106

Labs for sex chromosome disorders

karyotype

many end in 1st trimester abortions (MCC 1st trimester abortion)

107

Klinefelter syndrome

47,XXY
males with an extra X
testicular atrophy
tall, thin body
gynecomastia
infertility
mild intellectual disability
psychosocial adjustment abnormalities

108

47, XYY male

tall body
significant acne
mild intellectual disability (sometimes)

109

47, XXX syndrome

intellectual disability
menstrual abnormalities
80th percentile for height
25th percentile for head circumference

110

Trisomy 21

autosomal nondisjunction
Tri21 is most common
craniofacial abnormalities includinf protruding tongue, flat nose, small ears, vision and hearing loss, broad hands with simian crease, intellectual disability, cervical instability, increased space between first and second toes,

GI abnormalities: duodenal atresia, Hirschprung disease (inital failure to pass meconium), annular pancreas, celiac disease, early Alzheimer (30's), cardiac defects

usually survive into 4th decade of life or possibly longer

associated with ALL
small risk of AML as well
US: increased nuchal translucency

Quadruple screen:
decreased AFP
increased beta HCG
decreased estriol
increased inhibin A

111

trisomy 18 (Edwards syndrome)

severe intellectual disability
micrognathia (small mouth)
limb abnormalities (rocker bottom feet, overlapping fingers)

cardiac defects, GI abnormalities, frequently fatal within 1 year of life

112

Trisomy 13 (Parau syndrome)

cleft lip and palate
cardiac defects
CNS defects
severe intellectual disability
rounded nose
polydactyly
frequently fatal wihin first year


labs: karyotyping
quadruple screen
amniocentesis to confirm diagnosis

113

Deletion syndrome: Cris du chat

low birth weight
failure to thrive
intellectual disability
small head

high-pitched cat-like cry

114

Wolf- Hirschhorn syndrome

intellectual disability
multiple cranial abnormalities
seizures

115

Prader-Willi syndrome

-overeating and obesity
-decreased muscle tone in -infancy
-intellectual disability
-small hands and feet
-obesity- related complications

inherited from the father

116

Angelman syndrome

inherited from the mother
"happy puppet syndrome"
deletion or inactivation of genes on the maternally inherited chromosome 15, while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced

happy mood
intellectual disability
inappropriate laughter
ataxic gait

117

Velocardiofacial syndrome (22q11 deletion)

associated with DiGeorge syndrome
Cleft palate
Cardiac defects
Mild intellectual disability
Overbite
Speech disorders

T cell deficiency and hypocalcemia

118

Williams syndrome

cheerful
cardiac defects
intellectual disability

119

Fragile X syndrome

X- linked
trinucleotide repeat disorder (CGG) with anticipation in successive generations

occurs earlier and is more severe with each successive generation

H and P:
large face with prominent jaw, large ears
mild hand/foot abnormalities
macroorchidism
intellectual disability
hyperactivity
seizures

common cause of intellectual disability in men
screening, education, and monitoring needed

120

Congenital malformations- most common

unilateral cleft lip, with or without cleft palate

prevent with folate supplementation

121

Congenital malformations- what features are characteristic of fetal alcohol syndrome?

facial features: short palpebral fissures, thin upper lip, smooth philtrum, flattened midface

deficient brain growth: structural brain abnormalities,

122

Ebstein anomoly (6 key features)

1. tricuspid leaflets displaced inferiorly
2. RV hypoplasia
3. tricuspid regurgication or stenosis
4. 80% have a patent foramen ovale
5. dilated right atrium, leading to increased risk of SVT and WPW
6. physical exam: widely split S2, tricupid regurgitation

123

Branchial cleft cyst versus thyroglossal duct cyst

Branchial cleft cyst:
-lateral neck
-dose not move with swallowing

Thyroglossal duct cyst
-midline neck
-moves with swallowing
-often associated with ectopic thyroid tissue

124

Common presenting features of tuberous sclerosis

distinctive brown, fibrous plaque on the forehead seen in infancy

ash-leaf spots (hypopigmented macules most easily identified by wood's lamp)

Shagreen patch (leathery cutaneous thickening usually on the lower trunk)

facial angiofibromas (adenoma sebaceum)

seizures
intellectual disability
subependymal nodules in the brain

125

lactic acidosis, hyperlipidemia, hyperuricemia (gout)

Type 1 (von Gierke), where liver cells can't undergo gluconeogenesis

126

diaphragm weakness- respiratory failure

Type II (Pompe disease)

127

Increased glycogen in liver, severe fasting hypoglycemia

Type 1 (von Gierke disease)
where liver cells can't undergo gluconeogenesis

128

Hypatomegaly, hypoglycemia, hyperlipidemia (normal kidneys, lactate, and uric acid)

Type III (Cori disease)

129

Painful muscle cramps, myoglobunuria with strenuous exercise

Type V McArdle disease

130

severe hepatosplenomegaly, enlarged kidneys

Type 1 (von Gierke disease)
where liver cells can't undergo gluconeogenesis

131

Cleft lip/palate, life expectancy

TRisomy 13 (Patau)

132

high- pitched cat-like cry

cri du chat

133

Elfin facial features, cardiac fects

Williams syndrome

134

Tall, thin man with gynecomastia and testicular atrophy

Kleinfelter syndrome

135

Large ears, intellectual disability, macroorchidism

Fragile X syndrome

136

Obesity and overeating

Prader-Willi syndrome

137

Micrognathia, life expectancy

trisomy 18

138

happy mood, inappropriate laughter, ataxic gait

angelman syndrome

139

intellectual disability, simian crease, GI and cardiac defects

Trisomy 21

140

short stature, infertility, coarctation of aorta

Turner syndrome

141

How to prevent flushing with niacin administration?

pre-treat with aspirin, half an hour ahead,
extended-release formulation, may improve with time