Pediatrics (Genetic Disorders And Inborn Errors Of Metabolism)

Front 1

Define uniparental disomy

Back 1

Both members of a chromosome or gene pair are inherited from the same parent

Front 2

High AFP levels suggest what?

Back 2

fetal neural tube defects

Front 3

1) LOW AFP, LOW unconjugated estriol and HIGH B-HCG suggest what?
2) LOW AFP, LOW unconjugated estriol, and LOW B-HCG suggest what?

Back 3

1) Down's
2) Trisomy 18

Front 4

Which can be done earlier in the pregnancy - chorionic villus sampling or amniocentesis?

Back 4

CVS

Front 5

Name the syndrome:
1) Tall stature with very long fingers
2) Decreased upper to lower segment ratio
3) UPWARD lens subluxation
4) Aortic root dilation

Back 5

Marfan's - AD - mapped to chr 15 (fibrillin gene)

Front 6

Name the syndrome
1) Almond-shaped eyes and fishlike mouth
2) FTT early in life with obesity later in life
3) Short stature
4) Hypotonia in newborn period (poor suck)
5) Hypogonadism (microphallus, small testes)

Back 6

Prader-Willi (paternally derived chr 15)

Dx via FISH

Front 7

Name the syndrome
1) Blonde hair/ blue eyes
2) Large mouth with small head
3) "Happy puppet" - jerky arm movement with paroxysms of inappropriate laughter
4) Severe mental retardation

Back 7

Angelmann syndrome (maternally derived chr 15)

Dx via FISH

Front 8

Name the syndrome
1) Short stature and shield chest
2) Short webbed neck and low hairline
3) RIGHT-sided heart lesions (pulm valve stenosis)

Back 8

Noonan syndrome - AD (chromosome 12)

Front 9

Name the syndrome
1) Cardiac findings
2) Abnormal facies
3) THYMIC hypoplasia (immunodeficiency)
4) Cleft palate
5) PARATHYROID hypoplasia (low calcium)

Back 9

DiGeorge syndrome (deletion on chromosome 22 - AD)

Dx via FISH

Front 10

Name the syndrome
1) Hyperextensible joints
2) Loose, fragile skin
3) Tissue paper-thin scars
4) Cardiac/GI findings

Back 10

Ehlers-Danlos syndrome (defective type V collagen - AD)

Front 11

Name the syndrome
1) Blue sclerae
2) Fragile bones
3) Yellow or gray-blue teeth
4) Easy bruisability
5) Early conductive hearing loss

Back 11

Osteogenesis imperfecta (abnormal type I collagen)

Front 12

What does VACTERL stand for?

Back 12

V - vertebral defects
A - anal atresia
C - cardiac anomalies (VSD)
TE - TE fistula
R - renal defects
L - limb defects

Front 13

What does CHARGE stand for?

Back 13

C - colobomas (defect/absence of ocular tissue)
H - heart defects (tetralogy)
A - atresia of chonae
R - retardation
G - genital anomalies (hypoplasia)
E - ear anomalies (hearing loss)

Front 14

Name the syndrome
1) "Cocktail party" personality
2) Elfin facies
3) Mental retardation
4) Supravalvular aortic stenosis
4) Idiopathic hypercalcemia
5) Connective tissue abnormalities (frequent hernias/hoarse voice)

Back 14

Williams syndrome - deletion on chromosome 7 (elastin) - AD

Front 15

Name the syndrome
1) Single eyebrow (UNIBROW) with microcephaly
2) Very short stature without skeletal abnormalities
3) Infantile hypertonia
4) Mental retardation
5) Small hands and feet
6) Cardiac defects
7) Behavioral findings

Back 15

Cornelia de Lange syndrome

Front 16

Name the syndrome
1) Short stature (small for gestational age)
2) Limb asymmetry
3) Normal head circumference
4) Small, triangular face
5) Cafe-au-lait spots
6) Excessive sweating

Back 16

Russell-Silver syndrome

Front 17

Name the syndrome
1) Micrognathia and macroglossia
2) Cleft life and palate
3) Recurrent otitis media and upper airway obstruction

Back 17

Pierre Robin syndrome

Front 18

Name the syndrome
1) Catlike cry
2) Slow browth and mental retardation

Back 18

Cri du chat syndrome (partial deletion of short arm of chr 5)

Front 19

Name the syndrome
1) Mental retardation and hypertonia with scissoring of lower extremities
2) Delicate, small facial features
3) Clenched hands with overlapping digits *
4) Rocker bottom feet *

Back 19

Trisomy 18 - most die within first ear

Front 20

Name the syndrome
1) Holoproencephaly with severe MR
2) Microphthalmia
3) Cleft lip and palate

Back 20

Trisomy 13 - associated with midline defects

Front 21

Name the syndrome
1) Short stature
2) Webbed neck
3) Shield chest (widely spaced nipples)
4) Swelling of dorsum of hands and feet
5) Ovarian dysgenesis - primary amenorrhea
6) LEFT-sided heart lesions (aortic coarctation)

Back 21

Turner syndrome (XO)

Front 22

Name the syndrome
1) MENTAL RETARDATION
2) Large ears and large testes

Back 22

Fragile X syndrome - caused by anticipation (CGG repeats) - more severe in males

Front 23

Name the syndrome - most common cause of male infertility
1) Tall stature with long extremities
2) Hypogonadism (small penis and testes) with delayed puberty
3) Gynecomastia
4) Variable intelligence

Back 23

Klinefelter syndrome - XXY

Front 24

Define the following
1) Rhizomelia
2) Mesomelia
3) Acromelia

Back 24

1) Proximal long bone abnormality
2) Median long bone abnormality
3) Distal abnormalities

Front 25

Name the sydrome - most common skeletal dysplasia
1) Proximal long bone shortening (ortho problems)
2) Lumbar lordosis
3) Recurrent otitis media with conductive hearing loss
4) Megalencephaly with formaen magnum stenosis (can lead to hydrocephalus)

Back 25

Achondroplasia - AD

Front 26

Define potter syndrome

Back 26

Caused by severe oligohydraminos --> lung hypoplasia and Potter facies

Front 27

How do mitochondrial disorders generally present?

Back 27

As chronic and progressive disorders

Front 28

What is initial management of a child with an inborn error of metabolism?

Back 28

1) Provide source of energy - IV glucose
2) Remove offending agent
3) Correct acidosis (with sodium bicarb) and hyperammonemia (sodium benzoate/ sodium phenylacetate to increase NH3 extretion)

Front 29

Child presents with an unusual odor. What are you worried about?

Back 29

Defects in amino acid meabolism

Front 30

Name the syndrome
1) Marfanoid body habitus with NORMAL sized digits
2) DOWNWARD lens subluxation
3) Hypercoag state
4) Cardiac defects - AI/MR
5) Scoliosis
6) Developmental delay

Back 30

Homocystinuria - AR - caused by cystathionine synthase deficiency

1) Dx - increased methionine in urine
2) Tx - methionine-restriced diet and ASA

Front 31

Baby presents with recurrent renal stones. What are you worried about?

Back 31

Cystinuria - AR disorder caused by defect in renal reabsorption of cystine, lysine, arginine, and ornithine

Front 32

How do urea cycle defects manifest?

Back 32

Elevated NH3 - urea cycle is responsible for disposal of excess dietary nitrogen

1) NH3 is toxic to brain and liver
2) Sx include poor feeding, hyperventilation, seizures

Front 33

Name the syndrome
Mom has started feeding her 6 month old baby chicken. Immediately after, she starts vomiting and goes into a coma

Back 33

Ornithine transcarbamylase deficiency - X-linked recessive
1) Sx begin at onset of protein ingestion
2) Tx - low protein diet and management of hyperammonemia

Front 34

Name the syndrome
1) Newborn presents with HMS/hepatic dysfunction and hypoglycemia
2) Vomiting, diarrhea, and FTT
3) Cataracts with oil-droplet appearance
3) RTA

Back 34

Galactosemia - cannot metabolize galactose (in breast milk)

1) Dx - Nonglucose-reducing substance in urine (+ Clinitest)
2) Tx - galactose-free diet (only TRUE indication for SOY)
3) Great prognosis - normal intelligence

Front 35

What are glycogen storage diseases characterized by?

Back 35

Organomegaly and metabolic acidosis

Front 36

When and how do fatty acid oxidation defects present?

Back 36

1) Present during acute illness or fasting
2) Develop nonketotic hypoglycemia, hyperammonemia, myopathy, and cardiomyopathy

Medium chain acyl-CoA dehydrgenase is most common

Front 37

Name the syndrome
1) Presentation in early infancy
2) Hyperacusis
3) Macrocephaly
4) Cherry-red macula
5) Severe developmental delay

Back 37

Infantile Tay-Sachs
1) Dx - decreased hexosaminidase A activity
2) Prognosis - untreatable

Front 38

Name the syndrome
1) HMS and thrombocytopenia
2) Erlenmeyer flask-shape to distal femur

Back 38

Gaucher's disease - glucocerebrosidase deficiency

AR

Front 39

Name the syndrome
1) Colicky abdominal pain - mimics acute abdomen
2) Autonomic instability
3) Neurologic findings

Back 39

Acute intermittent porphyrias

Front 40

Name the syndrome
1) Kayser-Fleischer rings
2) Ataxia/seizures/ personality changes
3) Hepatic dysfunction

Back 40

Wilson's disease (defect in copper excretion)
1) Dx - decreased serum ceruloplasmin with elevated serum Cu
2) Tx - avoid Cu-containing food and chelation therapy (oral penicillamine)

Front 41

Name the sydrome
1) Myoclonic seizures
2) Pale, kinky friable hair

Back 41

Menkes kinky-hair syndrome
1) Dx - low serum ceruplasmin and copper