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Unit 2 Peds II > L5: Peds Genetics > Flashcards

L5: Peds Genetics Flashcards

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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
Hypotonia
Prader willi Fragile X Trisomy 13
26
What are turner syndrome patients at higher risk for?
X-linked disorders: Hemophilia A/B
27
Other trisomy 13 concerns
Kidney defects Congestive Heart Disease Omphalocele
28
what exercise can Osteogenesis Imperfecta patients do
low impact: swimming
29
Other concerns in turner syndrome
``` Hypothyroidism hearing loss liver function abnormalities strabismus ADHD emotional and social difficulties ```
30
If prader-willi syndrome isn't a paternal deletion, what is it?
maternal disomy: 2 copies inherited from mother | -milder, more autistic/higher IQ
31
Hypocalcemia
due to underdeveloped parathyroid | DiGeorge
32
Trisomy 18 MSK
hypertonia/spasticity overlapping digits/clenched hands rocker bottom foot deformity short sternum
33
Walker-murdoch sign
thumb and fifth finger of the hand overlap when grasping the opposite wrist MARFAN
34
Opalescent teeth
Osteogenesis Imperfecta
35
Klinefelter syndrome management
Testosterone replacement | 50% may be able to father a child with assistive technnology
36
Fragile X meds
apparently they have GERD even though she never mentioned it? -treat GERD, feeding therapy
37
Pamidronate adverse effects
hypocalcemia osteonecrosis of the jaw nephrotoxicity
38
Progressive hearing loss
Osteogenesis Imperfecta
39
Can turner syndrome patients conceive?
A small percentage can naturally. In vitro fertilization with egg donation → increased risk of aortic dissection during pregnancy
40
Type II Osteogenesis Imperfecta
Most severe: prenatal lethal
41
Down syndrome pulmonary
pulmonary hypertension intermittent hypoxia obstructive sleep apnea recurrent pneumonia
42
Osteogenesis Imperfecta inheritance
Autosomal dominant | "autosomal recessive subtypes"
43
Type III-IX Osteogenesis Imperfecta
Moderate-severe
44
Who can't receive live vaccines
DiGeorge Syndrome (immunocompromised)
45
Turner syndrome appearance
``` short low hairline webbed neck broad chest with wide space nipples (shield chest) pigmented nevi cubitus valgus (wide carrying angle) ```
46
Prader-willi management
Replace HGH and testosterone/estrogen | Healthy diet/exercise, therapy, group home
47
How often do patients with complete DiGeorge syndrome have chromosomal deletion?
50% | deletion of entire chromosome rather than just 22q11.2?
48
Seen on imaging of Osteogenesis Imperfecta
multiple fractures at various stages of healing | *can be mistaken for child abuse*
49
codfish bones
compression fractures: bi-concave osteopenia | Osteogenesis Imperfecta
50
Down syndrome cardiac
``` 1/2 have CHD Ventricular septal defect atrioventricular septal defect patent ductus arteriosus tetralogy of fallot atrial septal defect ```
51
Biggest marfan syndrome complication
Cardiac!!! Aortic rot dilation/dissection AORTIC RUPTURE Mitral valve prolapse
52
wormian bones
suture bones | Osteogenesis Imperfecta
53
Klinefelter syndrome IQ/behavior
Mild language delay | learning disabilities
54
Down syndrome appearance
``` 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
How to treat DiGeorge syndrome
Thymic transplant | Hematopoietic cell transplant
56
Prechordal mesoderm defect
trisomy 13
57
Pamidronate is a
bisphonsphonate: slows down bone reabsorption | for Osteogenesis Imperfecta
58
How to detect prader-willi genes?
molecular genetic test: methylation analysis
59
Hypogonadism
Prader-willi syndrome - sterility - increased osteoporosis
60
MSK of trisomy 13
``` hypotonia clinodactyly of fingers/toes polydactyly vertical talus (rocker bottom) Severe intellectual disability ```
61
Klinefelter Syndrome genetics
47 XXY males maternal or paternal origin
62
Female down's patients should
have OB/GYN consult prior to menarche bc they are fertile
63
Fragile X inheritance
X-linked recessive (males) | 90% new mutations
64
Infant presentation of turner syndrome
lymphedema in dorsum of hands and feet, CHD
65
the most common inherited intellectual disability
Fragile X
66
Thymus hypoplasia
DiGeorge | causes immunodeficiency: recurrent infections and inflammatory diseases
67
DiGeorge syndrome gene
Chromosome 22 deletion (22q11.2)
68
Labs of Osteogenesis Imperfecta
+/- elevated vitamin D, phosphorus, alkaline phosphatase hypercalcemia common: related to severity
69
Klinefelter Syndrome appearance
``` Tall stature narrow shoulders long legs microorchidism gynecomastia PRESENTS POSTPUBERTAL ```
70
Trisomy 13 management
most die in utero and before 6 months
71
Why doesn't fragile X present as strongly/often in females?
Lyon hypothesis of x-inactivation
72
Initial evaluation of DiGeorge syndrome
URGENT ECHO CBC with diff (B and T cells), phosphorus, calcium Renal ultrasounds CXR: absent thymic shadow
73
How can the FBN1 gene mutation be detected? (marfan)
prenatal: CVS or amniocentesis | DNA testing
74
Most common chromosomal abnormality
Down syndrome
75
any chromosome number other than 46
Aneuploidy
76
Absent thymic shadow
DiGeorge syndrome
77
Gonadoblastoma
tumor seen in turner syndrome: 45, X/46, XY monitor +/- prophylactic removal of gonads
78
Trisomy 18 other
Horseshoe kidney Airway obstruction Omphalocele, diaphragmatic hernias CHD: Ventricular septal defect, patent ductus arteriosus
79
Madelung deformity
radius and ulna alignment make a V | Turner syndrome
80
Type I Osteogenesis Imperfecta
mild | most common
81
Turner syndrome cardiac issues
bicuspid AV aortic stenosis Coarctation of the aorta→ aortic dissection risk + htn
82
Often goes undetected until fertility counseling
Klinefelter syndrome
83
What's a big thing when treating fractures in a patient with osteogenesis imperfecta?
You don't always have to do an X-ray to treat them. | ***Minimize radiation exposure***
84
How to give Pamidronate
IV infusion every 3 months for 4 hours/day x3 days
85
Mitral valve prolapse
Fragile X | Marfan
86
Turner syndrome behavior/IQ
AVERAGE
87
Down syndrome other
thyroid, hematologic, dermatologic, obesity, alzheimer’s, leukemia, seizures
88
Meds for marfan syndrome
Beta blockers
89
when to get and MRI for fragile X?
seizures
90
Fragile X appearance
Macrocephaly Large ears, long narrow face Joint laxity, hypotonia, pes planus Macro-orchidism
91
Osteogenesis Imperfecta gene mutations affect
*** Type I collagen ***
92
Horseshoe kidney
turner syndrome | trisomy 18
93
Other marfan syndrome appearance
``` Increased arm span/height ratio scoliosis arachnodactlyly pectus deformity hindfoot valgus hypermobile joints with laxity ```
94
How to diagnosis DiGeorge syndrome?
Decreased CD3+ T cells and clinical findings | "definite, probable, possible"
95
Trisomy 13
Patau syndrome
96
Trisomy 18 management
Most die in utero/first year | very few survive to adulthood with severe intellectual disability
97
Blue slcera
Osteogenesis Imperfecta
98
Osteogenesis Imperfecta aka
Brittle bone disease
99
How does a prader-willi infant present?
profound hypotonia!!! | feeding difficulties, FFT
100
Trisomy 18
Edwards syndrome
101
Prader-willi syndrome inheritance
Spontaneous paternal deletions on chromosome 15 | ***genetic imprinting and uniparental disomy of chromosome 15***
102
"pre-mutations" for fragile X
FXPOI: primary ovarian insufficiency FXTAS: tremor/ataxia syndrome
103
Life expectancy without treatment in complete DiGeorge syndrome
<1 year
104
Labs of klinefelter syndrome
low testosterone | FSH/LH elevated
105
Down syndrome MSK
``` short, hypotonia joint laxity: atlantoaxial instability short hands transverse palmar crease (simian) space between 1st and 2nd toes ```
106
Routine evaluation for marfan syndrome
echo/ECG
107
HEENT down syndrome
cataracts refractive errors conductive hearing loss with multiple infections abnormal teeth
108
DiGeorge physical appearance
low set ears, wide set eyes, small chin/mouth, bulbous nose tip Palatal difficulties causing speech delays GU abnormalities Skeletal abnormalities
109
Trisomy 21
Down syndrome
110
Osteogenesis Imperfecta presentation
``` 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
Down syndrome cognitive impairment
varies typical delay is twice the average age autism, ADHD, aggressive disorders
112
DiGeorge Syndrome IQ/behavior
developmental/intellectual delay | behavioral and psychiatric issues
113
Fragile X gene
CCG repeated in FMR1 gene
114
Maternal loss of chromosome 15
Angelman syndrome
115
Basilar skull deformity
Osteogenesis Imperfecta
116
Marfan syndrome gene
FBN1 (fibrillin) | -connective tissue protein
117
Prader-will behavior/IQ
developmental, intellectual delay behavioral problems food seeking behavior

Unit 2 Peds II (5 decks)

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