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Peds Exam 2 > Genetics > Flashcards

Genetics Flashcards

1
Q

Osteogenesis Imperfecta (OI) aka

A

“brittle bone disease”

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2
Q

Etiology of OI

A

Auto dominant

COLA1 and COL1A2 gene mutations (type 1 collagen genes)

Auto recessive subtypes

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3
Q

Types of OI

A

I: Mild (most common)
II: most severe (prenatal lethal)
III-IX: mod-severe

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4
Q

Clinical presentation of OI

A 
excessive/atypical fractures
short stature
bowlegs/leg deformities
scoliosis/kyphosis (breathing difficulty)
Basilar skull deformity (spinal cord concerns)
BLUE SCLERAE
HEARING LOSS (progressivve)
OPALESCENT TEETH
ligament and skin laxity
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5
Q

Imaging for OI

A

maternal U/S detects severe cases

Possible findings:

  • fractures @ various stages of healing (may be mistaken for child abuse)
  • WORMIAN BONES (suture bones), codfish vertebrae (compression fractures: bi-concave osteopenia)
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6
Q

What is important to consider in OI imaging

A

minimize radiation if possible

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7
Q

Wormian bones

A

suture bones in skull in OI

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8
Q

Codfish vertebrae

A

compression fracture in spine from OI that are bi-concave osteopenia

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9
Q

Dx of OI

A

clinical
Lab:
- BIOCHEMICAL TESTING (eval structure and quality of type 1 collagen)
- molecular testing may be beneficial

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10
Q

Labs in biochemical testing in OI

A

Vitamin D, phosphorous, ALP (N or elevated)

HYPERCALCEMIA: common and relates to severity

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11
Q

Meds for OI

A

Bisphosphonates-Pamidronate (IV infusion every 3 months)

Experimental: GH & BMT

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12
Q

What does bisphosphonates-pamidronate do?

A

slow bone reabsorption – reducing fracture rates and increase bone density

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13
Q

Risk of Bisphosphonate-pamidronate

A

hypocalcemia
osteonecrosis of the jaw
Nephrotoxicity

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14
Q

Other management for OI

A

immobilization (short duration) – surgery for some fracture, deformities, scoliosis
low impact exercise (swimming)
parent education: lifting, pulling, holding precautions
car seat/stroller accomodations, +/- wheelchair
Avoid alc, smoking and steroid use

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15
Q

Marfan Syndrome etiology

A

Auto dominant

FBNI (fibrillin mutation) – connective tissue protein

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16
Q

Clinical presentation of marfan syndrome

A

Cardiac: aortic root dilation/dissection

  • AORTIC RUPTURE RISK
  • mitral valve prolapse

Pulmonary:
- predisposed to spontaneous pneumothorax

Ophthalmologic:

  • myopia (nearsitedness)
  • lens subluxation/dislocation (ectopia lentis)

Musculoskeletal:

  • tall, thin
  • increased arm span/Ht ratio
  • scoliosis
  • arachnodactyly (+ hand signs)
  • pectus deformity
  • hindfoot valgus
  • hypermobile joints w/ laxity
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17
Q

(+) Hand signs for marfan syndrome

A

Steinberg

walker-murdock

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18
Q

Steinberg sign

A

fold thumb into closed fist

(+) if thumb extends from palm of hand

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19
Q

Walker-Murdoch sign

A

grip wrist w/ opposite hand.

(+) if thumb and fifth finger of hand overlap w/ each other

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20
Q

Diagnosis of marfan

A

CVS (chorionic villi sampling) or amniocentesis - may detect defective gene
Eye Exam - slit lamp
Radiograph: CXR, Skeletal abnormalities
MRI/CT prn

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21
Q

Consults for marfan

A

cardiology, ortho, ophthalmology

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22
Q

Meds for marfan

A

beta-block – control rate and pressures (aortic concerns)

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23
Q

Other management of marfan

A

strenuous activity restrictions

Possible surgery: enlarging aorta, MVP if needed, progressive scoliosis, chest deformity, various eye problems

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24
Q

Prader-Willi Syndrome Etiology

A

Long arm of Chromosome 15 – absence of PATERNAL genes expression (GENETIC IMPRINTING-UNIPARENTAL DISOMY)

Hypothalamic or pituitary dysfunction – primary central growth hormone deficiency

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25
Q

Genetic imprinting

A

expression of gene depends on gender of parent donating this gene

In PWS: loss of paternal copy
Angelman syndrome: loss of maternal copy

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26
Q

Types of PWS

A
  1. Paternal deletion (most cases) – 15q11-q13

2. Maternal disomy: two copies of chromo 15 from mother (none from father)

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27
Q

Maternal disomy

A

less distinct features than paternal deletion, higher IQ, milder behavioral problems
more likely to have autistic behaviors

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28
Q

Clinical presentation of PWS

A 
almond eyes
triagnular mouth
narrow forehead
short stature
small hands/feet
DEPIGMENTATION: skin and eyes
HYPOGONADISM: typically sterile, inc. risk for osteoporosis
Other concerns: developmental delay, intellectual disability, behavior problems, FOOD SEEKING BEHAVIOR
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29
Q

Presentation of PWS infants

A

HYPOTONIA: feeding difficulties, FTT

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30
Q

Presentation of PWS in early childhood

A

HYPERPHAGIA & weight gain – binge eating

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31
Q

Dx of PWS

A

molecular genetic test – METHYLATION ANALYSIS

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32
Q

Management of PWS

A 
replace HGH and testosterone/estrogen
healthy diet/exercise
multi therapies
group home?
monitor for complications
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33
Q

Complications w/ PWS

A 
type 2 DM
heart disease/stroke
sleep apnea
joint "wear and tear"
psych component
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34
Q

Most common inherited intellectual disability

A

Fragile X (FX)

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35
Q

FX etiology

A

X-linked recessive; 90% of x-linked mutations are new mutations

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36
Q

Epidemiology of FX

A

M>F
Lyon hypothesis
Father transmits to 100% of his daughters (50% of daughters transmit it further)

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37
Q

Lyon hypothesis

A

FX is more common in males because females have variable expression due to x-inactivation

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38
Q

Clinical presentation of FX

A 
intellectual impairment
developmental delay (first words 18-20 months) (motor delay: walk 18-20 months)
autistic behaviors
poor ability to cope w/ transitions
hyperactive
anxiety
behavior/tantrums
seizures
Soft smooth skin
macrocephaly w/ prominent forehead and chin
large ears and long, narrow face
MSK: joint laxity, hypotonia, pes planus
Eye: strabismus, blue iris
Cardiac: MVP (murmur)
Macro-orchidism after puberty
39
Q

MVP

A

FX and Marfans

40
Q

Blue sclera

A

OI

41
Q

Blue iris

A

FX

42
Q

Lens subluxation

A

Marfans

43
Q

Dx of FX

A

Consider genetic screening in males w/ intellectual disabilities

CGG repeat in FMR1 gene**

Pre-mutations (enhance sx you may have): primary ovarian insufficiency (FXPOI) & tremor/ataxia syndrome (FXTAS)

44
Q

Pre-mutations w/ FX

A

FXPOI

FXTAS

45
Q

Management of FX

A

ECHO
MRI and eval if seizure activity
GERD: medication, feeding therapy
PT, OT, Speech

46
Q

DiGeorge Syndrome (DGS) etiology

A

22q11.2 deletion syndrome (Chromo 22 defect)

Auto dominant but most often occurs randomly

47
Q

Symptoms of DGS

A

Triad:

  • cardiac abnormalities
  • hypoplastic thymus: variable T-cell deficits
  • hypocalcemia (underdeveloped thyroid)
48
Q

Subtypes of DGS

A

partial vs. complete

based on thymic hypoplasia and immune function

49
Q

Cardiac abnormalities in DGS

A

asymptomatic w/ mild defects

more severe present w/ cyanosis, HF, FTT, respiratory distress

50
Q

Thymus hypoplasia

A

thymus is absent in complete DGS

immunodeficiency

51
Q

Other concerns/presentations for DGS

A

craniofacial: low ears, wide set eyes, underdeveloped chin/small mouth, BULBOUS NOSE TIP
PALATAL DEFECTS (speech delay and difficult)
GU abnormalities
Skeletal (scoliosis)
dev. and intellectual delay
behavioral/psych issues
recurrent infections and inflammatory diseases

52
Q

Dx of DGS

A

Decreased CD3 + T cells + clinical findings

53
Q

Initial eval in those w/ DGS

A

urgent echo
Labs: CBC w/ diff, calcium and phosphorous (T and B cell subsets)
Renal U/S
CXR: absent thymic shadow

54
Q

Urgent echo

A

marfan syndrome

DGS

55
Q

Management of DGS

A

Cardiac consult: observe vs. surgery
Genetic consult for screening
Endocrine consult
speech/feeding (clef palate requires surgery)
behavioral/psych counseling
CAUTION W/ LIVE VACCINES (immunodeficiency)
Isolation

56
Q

Complete DGS

A

life expectancy < 1 YO w/o treatment; thymic transplant if possible, HCT

57
Q

Aneuploidies

A 
Klinefelter - sex
Turner - sex
Trisomy 13
trisomy 18
trisomy 21
58
Q

Klinefelter

A

47, XXY (maternal or paternal origin)

59
Q

When is klinefelter normally diagnosed

A

usually not caught until they try to start a family and are sterile

60
Q

Presentation of Klinefelter

A

infants/pre-pubertal boys typically have no obvious signs

Tall stature, narrow shoulder, long legs, microorchidism, gynecomastia

Mild language delay (expressive) and learning disabilities

61
Q

macroorchidism

A

FX

62
Q

microorchidism

A

Klinefelter

63
Q

Labs for klinefelter

A

testosterone low
FSH/LH elevated in adolescents
Get endocrine consult to consider testosterone replacement

64
Q

Evals for klinefelter

A

Endocrine
Infertility: 50% may father w/ assistance
Speech therapy and school-based interventions
counseling

65
Q

Turner Syndrome

A

45, X

Mosaicism:

  • 45 X/46, XX
  • 45, X/46, XY with partial or complete deletion of Y
66
Q

Risk of turner patients

A

higher risk for x-linked recessive disorders such as Hemophilia A/B

67
Q

Clinical features of turners

A

SHORT
low hairline
WEBBED NECK
broad chest w/ wide spaced nipples (SHIELD CHEST)
pigmented nevi
infants: lymphedema in dorsum of hands and feet, CHD
AVERAGE INTELLECT
Cardiac: bicuspid AV (aortic stenosis), coarctation of aorta (aortic dissection risk), HTN

MSK: cubitus valgus (wide carrying angle), short 4th metacarpals, MADELUNG DEFORMITY

GU: internal and external female genitalia
streaked gonads: underdeveloped
premature ovarian failure
primary amenorrhea (small % can get prego)
horeschoe kidney

others: hypothyroidism, hearing loss, liver function abnormalities, strabismus, ADHD, emoitional/social difficulties

68
Q

Aortic dissection risk

A

marfan

turner

69
Q

MVP

A

Marfan

FX

70
Q

Bicuspid AV (aortic stenosis)

A

Turner

71
Q

Madelung Deformity

A

in turners;

V-patttern bone alignment

72
Q

Hearing issues

A

OI (progressive)
Turner
Trisomy 21

73
Q

Management of Turners

A

infertility eval: IVF w/ egg donation but increased risk of aortic dissection during pregnancy

endocrine: estrogen and cyclic progesterone therapy to stimulate puberty and assist bone density

Monitor for gonadal malignancy: gonadoblastoma – prophylactic removal of gonads

74
Q

Trisomies

A

13 (Patau)
18 (edwards syndrome)
21 (down syndrome)

75
Q

Patau syndrome

A

trisomy 13

defect in PRECHORDALMESODERM: midline craniofacial, eyes, forebrain

76
Q

Presentation of Patau

A 
midline cleft lip and palate
sloping forehead
scalp defect (cutis aplasia)
micro- opthalmia
holoprosencephaly

MSK: hypotonia, clinodactylyl of fingers/toes, polydactylyl, vertical talus (“rocker bottom”)

Severe intellectual disability
kidney defects
CHD***
Omphalocele

77
Q

Clef lip risk

A

Patau

DGS

78
Q

Vertical talus (“rocker bottom”)

A

Trisomy 13

Trisomy 18

79
Q

Horseshoe kidney

A

Turner

Trisomy 18

80
Q

CHD

A

Turner infants

all trisomies

81
Q

Tx for trisomy 13

A

most die in utero
die before 1 mo
<5% survive beyond 6 months

supportive care – “noninterventional paradigm”

82
Q

Edwards syndrome

A

Trisomy 18 (F>M)

83
Q

Features of Edwards syndrome

A

intrauterine growth restriction (IUGR)
LBW, low set ears, microcephaly, small jaw/mouth, prominent occipital
MSK: hypertonia/spasticity, overlapping digits/clenched hands, rocker bottom, short sternum
Horseshoe kidney
airway obstruction
omphalocele, diaphragmatic hernia
CHD: VSD and PDA

84
Q

Microcephaly

A

Trisomy 18

85
Q

diaphragmatic hernias

A

edwards

86
Q

VSD

A

edwards

87
Q

Tx for edwards

A

majority die in utero; only 5% survive beyond 1 year
school age and adulthood is possible (severe intellectual disability)
palliative care vs. aggressive intervention
support group

88
Q

Most common chromosomal abnormality

A

Trisomy 21 (down syndrome)

89
Q

Development of trisomy 21

A

mild to mod delay
typical developmental delay is 2x average age;

risk increases w/ advanced maternal age

90
Q

Clinical features of trisomy 21

A 
epicanthic folds
flat nasal bridge
folded low set ears
brachycephaly
Brushfield spots (speckled iris)
protruding furrowed tongue
short neck w/ excessive skin
narrow palate
upslanting palebral fissures

HEENT: visual (cataracts, refractive errors), hearing loss, abnormal teeth

CHD: AVSD, VSD, ASD, PDA, TOF

Pulm: Pulm HTN, hypoxia intermittent, OSA, recurrent pneumo

GI: duodenal atresia, chronic constipation, hirschsprung disease, celliac

MSK: hypotonia, joint laxity, SiMON PALMAR CREASE

autism ADHD, aggressive behaviors

91
Q

Hypertonia

A

trisomy 18

92
Q

Eval for down syndrome

A

cardiac, hearing, opthalmology, neck/spine, endocrine GI
Developmental specialist
therapy (PT, OT, speech and feeding)

93
Q

genetic screen

A

pt risk for having fetus w/ disorder: pre and pos-test risks and determine need for more invasive tests

94
Q

Genetic diagnostic testing

A

diagnose w/ varying certainty the existence of genetic disorder

Peds Exam 2 (3 decks)

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