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X Pediatrics 2 > Genetics > Flashcards

Genetics Flashcards

1
Q

Is osteogenesis imperfecta autosomal dominant or recessive?

A

Dominant

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2
Q

Another name from osteogenesis imperfecta

A

Brittle bone disease

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3
Q

What causes OI?

A

Mostly mutations in genes alpha-1 and alpha-2 chains of type 1 collagen (COLA1 or COLA2)

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4
Q

Typing in OI

A

Type 1: mild (most common)
Type 2: Most severe (prenatal lethal)
Type III-IX: moderate-severe with characteristics of everything in between

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5
Q

Presentation of OI

A 
Excessive/atypical fractures
Blue sclerae
Progressive hearing loss
(short stature, growing deformities, opalescent teeth, ligament laxity)
*clinical diagnosis
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6
Q

How can you detect more severe cases of OI?

A

Maternal u/s

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7
Q

Possible imaging findings of OI

A 
Fractures at various stages of healing (FHx)
Wormian bones (accessory bones in suture lines)
Codfish vertebrae (compression fractures, bi-concave)
Osteopenia
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8
Q

Labs used in OI

A

Biochemical testing (structure and quality of type 1 collagen)
Vit D, phosphorus, alk phos elevated with recent fracture
Hypercalcemia common and relates to severity
(sometimes molecular testing)

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9
Q

Meds used for OI

A

Bisphosphonates-pamidronate (IV infusion every 3 mos: 4 hrs daily for 3 days)
Experimental GH or BMT

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10
Q

What does pamidronate do for OI?

A

Slows down bone reabsorption (reduce fracture rates and increase bone density)
Risk of hypocalcemia, osteonecrosis of the jaw and nephrotoxicity

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11
Q

Other things to consider in the management of OI

A 
Immobilize acute fractures (shorten duration)
Low impact exercise recommended
Lifting/pulling/holding precautions
Car seat and stroller accommodations
Avoid alcohol, smoking and steroid use
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12
Q

Is Marfan syndrome autosomal dominant or recessive?

A

Dominant

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13
Q

What causes Marfans?

A

Genetic mutation for connective tissue protein (FBN1 fibrillin)

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14
Q

General presentation of Marfans

A

Cardiac (aortic root dilation/dissection with aortic rupture risk or mitral valve prolapse)
Predisposed to spontaneous pneumothorax
Myopia (nearsight) or lens subluxation/dislocation

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15
Q

MSK presentation of Marfans

A 
Tall thing (increased arm span/ht ratio)
Scoliosis
Arachnodactyly (positive hand signs)
Pectus deformity
Hindfoot valgus
Hypermobile joints with laxity
(steinberg-thumb one and walker-murdoch sign with fingers around wrist)
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16
Q

How can you detect the defective gene in Marfans?

A

CVS or amniocentesis (both in utero)

Or DNA testing

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17
Q

What should be done with all routine evals in Marfans?

A

Echo/ECG

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18
Q

Management of Marfans

A

Beta blockers
Strenuous activity restrictions
Surgery (enlarge aorta, MVP, scoliosis, chest deformity or eye problems)

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19
Q

What causes Prader-Will syndrome?

A

Long arm of chromosome 15 due to absence of paternal gene expression
(hypothalamic or pituitary dysfunction-primary central GH deficiency)

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20
Q

What is genetic imprinting?

A

Expression of the gene depends on the gender of the parent donating the gene (Prader Willi is loss of paternal copy)

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21
Q

Maternal disomy of Prader-Willi syndrome

A

2 copies of chromosome 15 inherited from mother (none from father)
Less distinct features, higher IQ and milder behavioral probs
More likely to be autistic

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22
Q

Presentation of PWS

A 
Almond shaped eyes
Triangular mouth
Narrow forehead
Short stature
Small hands and feet
Hypogonadism
(food seeking, behavior, intellectual disability, development delay)
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23
Q

Difference between infancy and early childhood in PWS

A

Infants are profoundly hypotonic (decreased muscle tone, FTT)
Early childhood is hyperphagia and weight gain (binge eating)

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24
Q

How do you diagnose PWS?

A

Molecular genetic test (methylation analysis)

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25
Q

Management of PWS

A

Limited
Replace HGH and testosterone estrogen
Healthy diet/exercise
Multidisciplinary

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26
Q

Complications with obesity seen in PWS

A 
Type 2 DM
Heart disease/stroke
Sleep apnea
Joint wear and tear
Psychological component
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27
Q

What is the most common inherited intellectual disability?

A

Fragile X

28
Q

What is Fragile X classified as?

A

X-linked recessive

29
Q

Who do you see Fragile X in more?

A

Males (due to lyon hypothesis in females-variable expression due to X-inactivation)

30
Q

What is the developmental delay in fragile x?

A

Language with first words at 18-20 mos

Motor delay with walking around 18-20 mos

31
Q

Presentation of Fragile X

A 
Soft smooth skin
Macrocephaly (prominent forehead and chin)
Large ears and long, narrow face
Joint laxity, hypotonia and pes planus
Mitral valve prolapse
Macro-orchidism after puberty
32
Q

When do you see mitral valve prolapse?

A

Fragile X, Marfans

33
Q

How do you diagnose fragile X?

A

Genetic screening in males with intellectual disabilities

CGG repeated in FMR1 gene

34
Q

Management for fragile X

A

Echo
GERD (med and feeding therapy)
PT, OT, speech etc

35
Q

What causes DiGeorge syndrome?

A

22q11.2 deletion syndrome (chromosome 22 deletion)

36
Q

Is DiGeorge syndrome autosomal dominant or recessive?

A

Dominant (but most occur randomly)

37
Q

Classic triad of sxs for DGS

A

Cardiac abnormalities
Hypoplastic thymus (variable T cell deficits)
Hypocalcemia

38
Q

Subtypes for DGS

A

Partial vs complete loss of thymus (based on thymic hypoplasia and immune function)

39
Q

Presentation of DGS

A

Cardiac (asymptomatic or more severe with cyanosis, HF, FTT, respiratory distress)
Thymus absent in complete DGS
Immunodeficiency
Underdeveloped parathyroid leading to hypocalcemia

40
Q

How might a DGS pt present?

A

Craniofacial abnormalities (low ears, bulbous nose tip, wide eyes)
Palatal defect
GU abnormalities
Recurrent infections and inflammatory disease

41
Q

How to diagnose DGS

A

Decreased CD3 T cells and clinical findings (might not have a noticeable deletion)

42
Q

What to do on the initial eval for DGS

A

Urgent echo
CBC with diff, Ca and phosphorus
Renal u/s
Thymic shadow (CXR)

43
Q

DiGeorge pts and live vaccines

A

Have caution because of immunodeficiency

44
Q

Management of complete DGS

A

Life expectancy is less than 1 yr w/o tx
Thymic transplant if possible
Hematopoietic cell transplant

45
Q

Phenotype for Klinefelter syndrome

A 
47 XXY (maternal or paternal origin)
Male
46
Q

Postpubertal presentation of Klinefelter

A

Infants and pre-pubertal boys typically asymptomatic
Tall stature, narrow shoulders, long legs, microorchidism, gynecomastia
Mild language delay and learning disabilities

47
Q

Labs seen in Klinefelters

A

Testosterone low
FSH/LH elevated in adolescence
Do an infertility eval

48
Q

Phenotype of Turner syndrome

A

45 X

Mosaicism when the deletion is a Y and there is a partial deletion and the female has male complications

49
Q

What can occur due to the loss of an x chromosome in Turner syndrome?

A

Higher risk for x-linked recessive disorders (hemophilia A/B)
Normal higher risk for males b/c single X

50
Q

General clinical presentation of Turners

A

Short stature, webbed neck, shield chest (lymphedema in dorsum of hands and feet for infants)
Average intellect
Cardiac (bicuspid AV, CoA, aortic dissection risk, HTN)

51
Q

MSK presentation of Turners

A 
Cubitus valgus (wide carrying angle)
Short 4th metacarpals
Madelung deformity (radius and ulna in V pattern)
52
Q

GU presentation of Turners

A 
Internal and external female genitalia
Streaked gonads (underdeveloped)
Premature ovarian failure
Primary amenorrhea in adolescent female
Horseshoe kidney
53
Q

Management for Turners

A

IVF with egg donation but increased risk of aortic dissection in pregnancy
Estrogen and cyclic progesterone therapy to stimulate puberty and assist with bone density
Monitor for gonadoblastoma (remove gonads)

54
Q

What is trisomy 13 called?

A

Patau syndrome

55
Q

Where is the defect in trisomy 13?

A

Prechordal mesoderm (midline craniofacial, eyes and forebrain)

56
Q

Presentation of trisomy 13

A

Midline cleft lip and palate
Holoprosencephaly
Hypotonia (PWS), clinodactyly, polydactyly, vertical talus
CHD

57
Q

Tx of trisomy 13

A

Majority die in utero
Affected infants usually die before 1 mo and not many past 6 mos
Surgery can prolong life up to 2 yrs (supportive care)

58
Q

What is trisomy 18 also known as?

A

Edwards syndrome

Female

59
Q

Presentation of trisomy 18

A 
Intrauterine growth restriction with low birth weight, low set ears
Hypertonia and spasticity*
Overlapping digits/clenched hands
Rocker bottom foot defomity
Horseshow idney
Omphalocele
CHD
60
Q

Tx of trisomy 18

A

Most die in utero (not many beyond 1 yr)
Severe intellectual disability if survive
Palliative care vs prolong interventions to prolong life

61
Q

Most common chromosomal abnormality

A

Trisomy 21

62
Q

How does a down syndrome pt look?

A 
Flat nasal bridge
Folded low set ears
Brushfield spots on iris
Protruding furrowed tongue
Short neck with excessive skin
etc
63
Q

Cardio defects in trisomy 21

A

AVSD and VSD are common

64
Q

MSK presentation in trisomy 21

A

Hypotonia
Transverse palmar crease (Simian)
Joint laxity

65
Q

When does ACOG recommend all women should be offered aneuploidy screening?

A

20 wks gestation

X Pediatrics 2 (10 decks)

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