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Unit 2 Peds II > L5: Peds Genetics > Flashcards

L5: Peds Genetics Flashcards

1
Q

Prader-willi syndrome physical appearance

A 
Almond shaped eyes
Triangular mouth
Narrow forehead
Short stature
Depigmentation of skin and eyes
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2
Q

Why are ppl with marfan syndrome predisposed to spontaneous pneumothorax

A

tall, slender body type

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3
Q

DiGeorge syndrome inheritance

A

Autosomal dominant

BUT most often occurs randomly

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4
Q

Trisomy 18 appearance

A 
Female
Intrauterine growth restriction (IUGR):
low birth weight
low set ears
microcephaly
small jaw/mouth
prominent occipital
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5
Q

Who to screen for fragile X?

A

any male with intellectual disabilities

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6
Q

Complications from obesity (Prader-willi syndrome)

A 
T2DM
Heart disease
Stroke
Sleep apnea
Joints
Psychological
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7
Q

Osteogenesis Imperfecta precautions:

A

avoid lifting, pulling, holding, alcohol, smoking, steroid use

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8
Q

Marfan syndrome inheritance

A

Autosomal dominant

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9
Q

Patau syndrome appearnce

A 
midline cleft lip and palate
sloping forehead
scalp defects (cutis aplasia)
micro-ophthalmia
holoprosencephaly
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10
Q

DiGeorge subtypes

A

Partial vs complete

Based on thymic hypoplasia and immune function

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11
Q

Blue iris

A

Fragile X

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12
Q

Activity restriction for marfan syndrome

A

no strenuous activity

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13
Q

Turner syndrome genetics

A 
45, X
Mosaicism: 
45, X/46, XX
45, X/46, XY
-partial or complete deletion of one X chromosome
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14
Q

DiGeorge triad

A
  1. Cardiac abnormalities (wide range)
  2. Hypoplastic thymus: T cell deficits
  3. Hypocalcemia
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15
Q

when is aneuploidy screening done

A

by 20 weeks gestation

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16
Q

Can Osteogenesis Imperfecta be detected prenatally?

A

Only Severe cases on maternal ultrasound

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17
Q

Cleft palate

A 
DiGeorge syndrome
Trisomy 13 (Patau)
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18
Q

Steinberg sign

A

thumb folded into a closed fist extends from the palm of the hand
MARFAN

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19
Q

Prader-willi syndrome is a ______ dysfunction

A

Hypothalamic or pituitary dysfunction

-primary central growth hormone deficiency

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20
Q

Turner syndrome GU

A 
Female 
Streaked gonads (underdeveloped)
Premature ovarian failure
Primary amenorrhea (but small % can still get pregnant)
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21
Q

Fragile X behavior/IQ

A 
Intellectual impairments
Language delay: first words 18-20 months
Motor delay: walk at 18-20 months
Autism
Hyperactivity
Anxiety
Behavior/tantrums
Seizures
Poor ability to cope with transitions
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22
Q

Turner syndrome management

A

Estrogen + cyclic progesterone therapy to stimulate puberty and assist with bone density (+/- growth hormone)

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23
Q

Down syndrome GI

A

duodenal atresia
chronic constipation
Hirschsprung disease
Celiac

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24
Q

Ectopia lentis

A

Marfan syndrome

lens subluxation/dislocation

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25
Q

Hypotonia

A

Prader willi
Fragile X
Trisomy 13

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26
Q

What are turner syndrome patients at higher risk for?

A

X-linked disorders: Hemophilia A/B

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27
Q

Other trisomy 13 concerns

A

Kidney defects
Congestive Heart Disease
Omphalocele

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28
Q

what exercise can Osteogenesis Imperfecta patients do

A

low impact: swimming

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29
Q

Other concerns in turner syndrome

A 
Hypothyroidism
hearing loss
liver function abnormalities
strabismus
 ADHD
emotional and social difficulties
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30
Q

If prader-willi syndrome isn’t a paternal deletion, what is it?

A

maternal disomy: 2 copies inherited from mother

-milder, more autistic/higher IQ

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31
Q

Hypocalcemia

A

due to underdeveloped parathyroid

DiGeorge

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32
Q

Trisomy 18 MSK

A

hypertonia/spasticity
overlapping digits/clenched hands
rocker bottom foot deformity
short sternum

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33
Q

Walker-murdoch sign

A

thumb and fifth finger of the hand overlap when grasping the opposite wrist
MARFAN

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34
Q

Opalescent teeth

A

Osteogenesis Imperfecta

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35
Q

Klinefelter syndrome management

A

Testosterone replacement

50% may be able to father a child with assistive technnology

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36
Q

Fragile X meds

A

apparently they have GERD even though she never mentioned it?
-treat GERD, feeding therapy

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37
Q

Pamidronate adverse effects

A

hypocalcemia
osteonecrosis of the jaw
nephrotoxicity

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38
Q

Progressive hearing loss

A

Osteogenesis Imperfecta

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39
Q

Can turner syndrome patients conceive?

A

A small percentage can naturally.

In vitro fertilization with egg donation
→ increased risk of aortic dissection during pregnancy

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40
Q

Type II Osteogenesis Imperfecta

A

Most severe: prenatal lethal

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41
Q

Down syndrome pulmonary

A

pulmonary hypertension
intermittent hypoxia
obstructive sleep apnea
recurrent pneumonia

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42
Q

Osteogenesis Imperfecta inheritance

A

Autosomal dominant

“autosomal recessive subtypes”

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43
Q

Type III-IX Osteogenesis Imperfecta

A

Moderate-severe

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44
Q

Who can’t receive live vaccines

A

DiGeorge Syndrome (immunocompromised)

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45
Q

Turner syndrome appearance

A 
short
low hairline
webbed neck
broad chest with wide space nipples (shield chest) pigmented nevi
cubitus valgus (wide carrying angle)
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46
Q

Prader-willi management

A

Replace HGH and testosterone/estrogen

Healthy diet/exercise, therapy, group home

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47
Q

How often do patients with complete DiGeorge syndrome have chromosomal deletion?

A

50%

deletion of entire chromosome rather than just 22q11.2?

48
Q

Seen on imaging of Osteogenesis Imperfecta

A

multiple fractures at various stages of healing

can be mistaken for child abuse

49
Q

codfish bones

A

compression fractures: bi-concave osteopenia

Osteogenesis Imperfecta

50
Q

Down syndrome cardiac

A 
1/2 have CHD
Ventricular septal defect
atrioventricular septal defect
patent ductus arteriosus
tetralogy of fallot
atrial septal defect
51
Q

Biggest marfan syndrome complication

A

Cardiac!!!
Aortic rot dilation/dissection
AORTIC RUPTURE
Mitral valve prolapse

52
Q

wormian bones

A

suture bones

Osteogenesis Imperfecta

53
Q

Klinefelter syndrome IQ/behavior

A

Mild language delay

learning disabilities

54
Q

Down syndrome appearance

A 
epicanthic folds
flat nasal bridge
folded low set ears
brachycephaly
brushfield spots (speckled iris)
open mouth
protruding furrowed tongue
short neck with excessive skin
narrow palate
upslanting palpebral fissures
55
Q

How to treat DiGeorge syndrome

A

Thymic transplant

Hematopoietic cell transplant

56
Q

Prechordal mesoderm defect

A

trisomy 13

57
Q

Pamidronate is a

A

bisphonsphonate: slows down bone reabsorption

for Osteogenesis Imperfecta

58
Q

How to detect prader-willi genes?

A

molecular genetic test: methylation analysis

59
Q

Hypogonadism

A

Prader-willi syndrome

  • sterility
  • increased osteoporosis
60
Q

MSK of trisomy 13

A 
hypotonia
clinodactyly of fingers/toes
polydactyly
vertical talus (rocker bottom)
Severe intellectual disability
61
Q

Klinefelter Syndrome genetics

A

47 XXY
males
maternal or paternal origin

62
Q

Female down’s patients should

A

have OB/GYN consult prior to menarche bc they are fertile

63
Q

Fragile X inheritance

A

X-linked recessive (males)

90% new mutations

64
Q

Infant presentation of turner syndrome

A

lymphedema in dorsum of hands and feet, CHD

65
Q

the most common inherited intellectual disability

66
Q

Thymus hypoplasia

A

DiGeorge

causes immunodeficiency: recurrent infections and inflammatory diseases

67
Q

DiGeorge syndrome gene

A

Chromosome 22 deletion (22q11.2)

68
Q

Labs of Osteogenesis Imperfecta

A

+/- elevated vitamin D, phosphorus, alkaline phosphatase

hypercalcemia common: related to severity

69
Q

Klinefelter Syndrome appearance

A 
Tall stature
narrow shoulders
long legs
microorchidism
gynecomastia
PRESENTS POSTPUBERTAL
70
Q

Trisomy 13 management

A

most die in utero and before 6 months

71
Q

Why doesn’t fragile X present as strongly/often in females?

A

Lyon hypothesis of x-inactivation

72
Q

Initial evaluation of DiGeorge syndrome

A

URGENT ECHO

CBC with diff (B and T cells), phosphorus, calcium

Renal ultrasounds

CXR: absent thymic shadow

73
Q

How can the FBN1 gene mutation be detected? (marfan)

A

prenatal: CVS or amniocentesis

DNA testing

74
Q

Most common chromosomal abnormality

A

Down syndrome

75
Q

any chromosome number other than 46

A

Aneuploidy

76
Q

Absent thymic shadow

A

DiGeorge syndrome

77
Q

Gonadoblastoma

A

tumor seen in turner syndrome: 45, X/46, XY

monitor +/- prophylactic removal of gonads

78
Q

Trisomy 18 other

A

Horseshoe kidney
Airway obstruction
Omphalocele, diaphragmatic hernias
CHD: Ventricular septal defect, patent ductus arteriosus

79
Q

Madelung deformity

A

radius and ulna alignment make a V

Turner syndrome

80
Q

Type I Osteogenesis Imperfecta

A

mild

most common

81
Q

Turner syndrome cardiac issues

A

bicuspid AV
aortic stenosis
Coarctation of the aorta→ aortic dissection risk + htn

82
Q

Often goes undetected until fertility counseling

A

Klinefelter syndrome

83
Q

What’s a big thing when treating fractures in a patient with osteogenesis imperfecta?

A

You don’t always have to do an X-ray to treat them.

Minimize radiation exposure

84
Q

How to give Pamidronate

A

IV infusion every 3 months for 4 hours/day x3 days

85
Q

Mitral valve prolapse

A

Fragile X

Marfan

86
Q

Turner syndrome behavior/IQ

87
Q

Down syndrome other

A

thyroid, hematologic, dermatologic, obesity, alzheimer’s, leukemia, seizures

88
Q

Meds for marfan syndrome

A

Beta blockers

89
Q

when to get and MRI for fragile X?

90
Q

Fragile X appearance

A

Macrocephaly
Large ears, long narrow face
Joint laxity, hypotonia, pes planus
Macro-orchidism

91
Q

Osteogenesis Imperfecta gene mutations affect

A

Type I collagen
***

92
Q

Horseshoe kidney

A

turner syndrome

trisomy 18

93
Q

Other marfan syndrome appearance

A 
Increased arm span/height ratio
scoliosis
arachnodactlyly
pectus deformity
hindfoot valgus
hypermobile joints with laxity
94
Q

How to diagnosis DiGeorge syndrome?

A

Decreased CD3+ T cells and clinical findings

“definite, probable, possible”

95
Q

Trisomy 13

A

Patau syndrome

96
Q

Trisomy 18 management

A

Most die in utero/first year

very few survive to adulthood with severe intellectual disability

97
Q

Blue slcera

A

Osteogenesis Imperfecta

98
Q

Osteogenesis Imperfecta aka

A

Brittle bone disease

99
Q

How does a prader-willi infant present?

A

profound hypotonia!!!

feeding difficulties, FFT

100
Q

Trisomy 18

A

Edwards syndrome

101
Q

Prader-willi syndrome inheritance

A

Spontaneous paternal deletions on chromosome 15

genetic imprinting and uniparental disomy of chromosome 15

102
Q

“pre-mutations” for fragile X

A

FXPOI: primary ovarian insufficiency
FXTAS: tremor/ataxia syndrome

103
Q

Life expectancy without treatment in complete DiGeorge syndrome

104
Q

Labs of klinefelter syndrome

A

low testosterone

FSH/LH elevated

105
Q

Down syndrome MSK

A 
short, hypotonia
 joint laxity: atlantoaxial instability
short hands
transverse palmar crease (simian)
space between 1st and 2nd toes
106
Q

Routine evaluation for marfan syndrome

107
Q

HEENT down syndrome

A

cataracts
refractive errors
conductive hearing loss with multiple infections
abnormal teeth

108
Q

DiGeorge physical appearance

A

low set ears, wide set eyes, small chin/mouth, bulbous nose tip
Palatal difficulties causing speech delays
GU abnormalities
Skeletal abnormalities

109
Q

Trisomy 21

A

Down syndrome

110
Q

Osteogenesis Imperfecta presentation

A 
Excessive/atypical fractures
Short stature, bowlegs, limb deformity
Scoliosis/kyphosis→ breathing difficulty
Basilar skull deformity→ spinal cord concerns
Blue sclerae
Progressive hearing loss
Opalescent teeth
Ligament/skin laxity
111
Q

Down syndrome cognitive impairment

A

varies
typical delay is twice the average age
autism, ADHD, aggressive disorders

112
Q

DiGeorge Syndrome IQ/behavior

A

developmental/intellectual delay

behavioral and psychiatric issues

113
Q

Fragile X gene

A

CCG repeated in FMR1 gene

114
Q

Maternal loss of chromosome 15

A

Angelman syndrome

115
Q

Basilar skull deformity

A

Osteogenesis Imperfecta

116
Q

Marfan syndrome gene

A

FBN1 (fibrillin)

-connective tissue protein

117
Q

Prader-will behavior/IQ

A

developmental, intellectual delay
behavioral problems
food seeking behavior

Unit 2 Peds II (5 decks)

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