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1 Peds Genetics Flashcards

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1
Q

What’s the real name for “brittle bone disease”?

A

Osteogenesis Imperfecta

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2
Q

What type of genetic disease is OI?

A

Autosomal dominant mostly

Some autosomal recessive subtypes

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3
Q

Majority of cases of OI involve mutations in what genes?

A

Alpha-1 and alpha-2 chains of TYPE I COLLAGEN (COLA1 or COLA2)

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4
Q

Which subtype of OI is the most common?

A

Type I

It’s mild. Sometimes you wouldn’t even know by looking at them that they’s got fucked up bones.

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5
Q

Which subtype of OI is the most severe?

A

Type II

Usually lethal in utero

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6
Q

How many other subtypes of OI are there?

A

Types III-IX: Moderate-severe with characteristics of everything in between

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7
Q

Key clinical features of osteogenesis imperfecta

A 
Excessive/atypical fractures***
Short stature
Bowlegs or other limb deformities
Scoliosis/kyphosis*** (more common with Type III-IX, can lead to breathing difficulties)
Basilar skull deformities —> spinal cord concerns
BLUE SCLERAE******************
Hearing loss (progressive)***
Opalescent teeth***
Ligament and skin laxity
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8
Q

What are the dental findings in OI called?

A

Dentinogenesis imperfecta

Opalescent teeth

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9
Q

What is a common imaging modality for early diagnosis of OI?

A

Maternal U/S if severe

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10
Q

Fractures at various stages of healing that may be misdiagnosed as child abuse

A

Osteogenesis imperfecta

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11
Q

What are some hallmark imagining findings suggestive of OI?

A

Wormian bones (suture bones of skull)

Codfish vertebrae (vertebral bodies bi-concave from compression fractures)

Osteopenia

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12
Q

Why might you skip f/u xrays for a simple fracture in a kid with OI?

A

To minimize radiation exposure

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13
Q

How is OI usually diagnosed?

A

Often it’s a clinical diagnosis, especially if family history (unless you want to determine the specific subtype)

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14
Q

What does biochemical testing do for us in OI?

A

Helps evaluate structure and quality of type I collagen

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15
Q

Common lab findings in OI

A

Vitamin D, phosphorus, alkaline phosphates may be normal or elevated with recent fracture

HYPERCALCEMIA is common and relates to severity (b/c bones constantly being remodeled)

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16
Q

What is the main medicinal treatment for OI?

A

Bisphosphonates - Pamidronate (IV infusion every 3 months: 4 hours daily for 3 days)

Slows down bone reabsorption —> reduces fracture rates and increases bone density

Risks of hypocalcemia, OSTEONECROSIS OF THE JAW, and nephrotoxicity. But it’s helpful, I guess.

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17
Q

Marfan syndrome is a genetic mutation in …

A

Connective tissue protein FBN1 (fibrillin)

Autosomal dominant

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18
Q

Cardiac effects of Marfan syndrome

A

AORTIC ROOT DILATION/DISSECTION**
—> Aortic rupture risk

Mitral valve prolapse

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19
Q

What pulmonary condition are Marfan patients more predisposed to experience?

A

Spontaneous pneumothorax

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20
Q

What are the ophthalmologic effects of Marfan syndrome?

A

Myopia (nearsightedness)

Lens subluxation/dislocation

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21
Q

Musculoskeletal presentation of Marfan syndrome

A

Tall, thin with increased arm span/ht ratio

SCOLIOSIS

ARACHNODACTYLY (look for positive hand signs)

Pectus deformity

Hind foot valgus

Hyper mobile joints with laxity

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22
Q

Steinberg sign

A

Used for clinical evaluation of Marfan patients

Fold your thumb into the closed fist. Test is positive if the thumb tip extends from the palm of the hand.

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23
Q

Walker-Murdoch sign

A

Used for clinical evaluation of Marfan patients

Grip your wrist with your opposite hand. If thumb and fifth finger of the hand overlap with each other, this represents a positive test.

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24
Q

How is marfan diagnosed?

A

CVS or amniocentesis may detect defective gene

DNA testing

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25
How do you evaluate a patient with Marfan?
ECHO/ECG to look for cardiac issues Eye exam including slit lamp for lens dislocation Radiographs: CXR, skeletal abnormalities MRI/CT PRN
26
How do you manage patients with Marfan?
Involve specialists - Cardio, Ortho, Ophtho Meds: Beta blocker (to take stress off the heart) Strenuous activity restrictions Possible surgery, if enlarged aorta, progressive scoliosis, chest deformity, eye problems
27
Where is the genetic defect in Prader-Willi Syndrome?
Affects long arm of Chromosome 15 - due to absence of PATERNAL gene expression
28
What is the primary cause of dysfunction in Prader-Willi Syndrome?
Hypothalamic or pituitary dysfunction —> primary central growth hormone deficiency
29
Expression of a gene depends on gender of parent donating the gene
Genetic imprinting
30
Uniparental disomy of Chromosome 15 leads to ______ if lose is paternal and _____ if loss if maternal
``` Paternal = Prader-Willi syndrome*** Maternal = Angelman syndrome ```
31
Which is more common - Prader-Willi or Angelman?
Prader-Willi - 75% of cases of chromosome 15 disomy Angelman —> less distinct features, higher IQ, milder behavioral problems PWS —> more likely to have autistic behaviors
32
Physical traits of PWS
``` Almond shaped eyes Triangular mouth Narrow forehead Short stature Small hands and feet Depigmentation (skin and eyes) Hypogonadism (typically sterile) Risk for osteoporosis ```
33
Social concerns for PWS
Developmental delay Intellectual disability Behavioral problems ***Food seeking behavior***
34
PWS in infants vs early childhood
Infants: profound HYPOTONIA —> feeding difficulties and FTT Early childhood: HYPERPHAGIA and weight gain (binge eating)
35
Diagnosis of PWS is via...
Molecular genetic test —> Methylation analysis
36
Management of PWS
Limited 😔 ``` Replace HGH and testosterone/estrogen Healthy diet/exercise Multidisciplinary therapies May consider group home Monitor for complications ``` Meds for hyperphagia generally not helpful
37
PWS complications
``` Type 2 DM Heart disease/stroke Sleep apnea Joint “wear and tear” Psychological component ```
38
Most common inherited intellectual disability
Fragile X X-linked recessive disorder
39
Because Fragile X is X-linked, it has...
Higher incidence/severity in males
40
What is the Lyon hypothesis?
Because they have two X’s, variable expression due to X-activation (mosaicism) means they are typically ok in diseases like Fragile X
41
______% of x-linked recessive disorders are new mutations
90%
42
What clinical presentation is usually the reason boys end up being diagnosed with Fragile X?
Intellectual impairment —> genetic testing
43
Clinical presentation of Fragile X
``` Intellectual impairment Developmental delay (late language and motor delay) Autistic behaviors Poor ability to cope with transitions Hyperactivity Anxiety Behavior/tantrums Seizures ```
44
Physical characteristics of kids with Fragile X
Soft smooth skin Microcephalic with prominent forehead/chin Large ears and long, narrow face MSK: joint laxity, hypotonia, pes Plano’s Eye: Strabismus, blue iris CV: Mitral valve prolapse (murmur) Macro-orchid is after puberty
45
What is the specific gene that causes Fragile X?
CGG repeat in FMR1 gene (FragileX Mental Retardation Gene) Pre-mutations (present slightly differently): • Primary ovarian insufficiency (FXPOI) • Tremor/ataxia syndrome (FXTAS)
46
How do you manage patients with Fragile X?
Multidisciplinary: med consults, various therapies, patient/parent ed Echo MRI and eval if seizures GERD: meds, feeding therapy PT, OT, Speech, individualized educ plan
47
What gene is affected in DiGeorge Syndrome?
22q11.2 defection
48
What is the inheritance pattern for DiGeorge Syndrome?
Autosomal dominant, but most often occurs randomly
49
Classic triad of SSx for DiGeorge Syndrome
Cardiac abnormalities Hypoplastic thymus Hypocalcemia
50
Subtypes of DiGeorge Syndrome is based upon ...
Thymic hypoplasia and immune function Can be partial or complete
51
How do cardiac symptoms present in DiGeorge Syndrome?
Can be asymptomatic with mild defects More severe present with potential cyanosis, HF, FTT, and/or respiratory distress
52
Complete DiGeorge Syndrome is characterized by...
Complete absence of the thymus —> immunodeficiency
53
Why to DiGeorge patients end up with hypocalcemia?
Due to underdeveloped parathyroid
54
Besides the classic triad of SSx, what other potential concerns do DiGeorge patients have?
Craniofacial abnormalities (low set ears, wide set eyes, underdeveloped chin/small mouth, bulbous nose tip) Palatial defects —> speech delay/difficulty GU abnormalities Recurrent infections/inflammatory diseases (b/c thymus hypoplasia) Can also have skeletal concerns, developmental delay, and behavioral issues)
55
Dx of DiGeorge is based on...
Decreased CD3+ T cells and clinical findings There are three different criteria for Dx (“Definitive”, “Probable”, “Possible”)
56
Initial evaluation of DiGeorge Syndrome should include...
Urgent echo (b/c of cardiac concerns) Labs: CBC w/ diff, Ca and PO4 Renal U/S CXR —> thymic shadow
57
How do you manage DiGeorge Syndrome?
Cardiac consult (observation v surgery) Genetic consult for screening/counseling Endocrine consult Speech/feeding therapist Behavioral/psychiatric counseling in adolescents CAUTION with live vaccines Isolation???
58
What is the prognosis for Complete DiGeorge?
Life expectancy in infant is less than 1 year without treatment Thymic transplant if possible (if they do, they usually do quite well) Hematopoietic stem cell transplant
59
Chromosomes with any number other than 46
Aneuploidies Examples: Klinefelter Syndrome Turner Syndrome Trisomy 13, 18, and 21
60
47, XXY
Klinefelter Syndrome
61
When does Klinefelter typically present?
POSTPUBERTAL Infants and pre-pubertal boys typically have no obvious signs Tall stature, narrow shoulders, long legs, microorchidism, gynecomastia, mild language delay/learning disabilities
62
What do labs look like in Klinefelter syndrome?
Testosterone low, FSH/LH elevated in adolescents (consider testosterone replacement) Infertility eval: 50% may be able to father kids with assistance
63
45, XO
Turner Syndrome 1 in 2000 females Can be result of mosaicism: 45,X / 46, XX 45,X / 46, XY with partial or complete deletion of Y
64
Turner patients have higher risk for ...
X-linked recessive disorders such as hemophilia A/B
65
Short stature, low hairline, webbed neck, broad chest with wide spaced nipples, shield chest, pigmented nevi, average intellect
Turner Syndrome Infants: lympedema in dorsum of hands and feet, CHD
66
Common cardiac findings in Turner Syndrome
COARCTATION OF THE AORTA (risk for aortic dissection) Bicuspid AV (aortic stenosis) HTN
67
MSK findings in Turner Syndrome
Cubits Valgus Short 4th metacarpals Madelung Deformity
68
GU findings in Turner Syndrome
STREAKED GONADS (underdeveloped) Premature ovarian failure Primary amenorrhea (small % can still get preggo) HORSESHOE KIDNEY (or other renal malformations)
69
Management of Turner Syndrome
Multidisciplinary team Infertility —> IVF with egg donation (pregnancy risky b/c of risk of aortic dissection) Estrogen and cyclic progesterone therapy to stimulate puberty and assist with bone density Monitor for gonadal malignancy (maybe prophylactic removal of gonads) Counseling
70
What are the three trisomies that are possible?
Trisomy 13 = Patau Syndrome Trisomy 18 = Edwards Syndrome Trisomy 21 = Down Syndrome
71
Majority of which trisom(ies) die en utero?
Trisomy 13 and 18
72
Which trisomy results in midline craniofacial, eyes, forebrain?
Trisomy 13 (Patau) Defect is prechordal mesoderm
73
Clinical features of Trisomy 13
Midline cleft lip and palate, sloping forehead, scalp defects, micro-ophthalmia, holoprosencephaly MSK: HYPOtonia, clinodactyly, polydactyl, vertical talus Severe intellectual disability, kidney defects, CHD, omphalocele
74
Prognosis for Trisomy 13
The worst Majority die in utero Affected infants usually die before 1 month of age and <5% survive beyond 6 months Currently supportive care is recommended (“noninterventional paradigm”)
75
Clinical features of Trisomy 18 (Edwards)
Intrauterine growth restriction with low birth weight, low set ears, microcephalic, small jaw/mouth, prominent occipital MSK: HYPERtonia/spasticity, overlapping digits, rocker bottom foot, short sternum Horseshoe kidney Airway obstruction Omphalocele CHD (VSD and PDA)
76
Prognosis for Trisomy 18
Majority die in utero 50% die within 2 weeks and only 5 % survive beyond 1 year
77
Most common chromosomal abnormality (1/600)
Trisomy 21 (Down)
78
Typical developmental delay in Down Syndrome is ...
Twice the average age
79
Risk of Down Syndrome is increased with...
Advanced Maternal age 25 yo: 1/1350 35 yo: 1/350 45 yo: 1/35
80
Clinical features of Trisomy 21
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
81
50% of Down Syndrome patients have...
CHD Ex: AVSD, VSD, ASD, PDA, TOF
82
HEENT findings in Down Syndrome
Visual (cataracts, refractive errors) Hearing (conductive loss with multiple infections) Abnormal teeth
83
Pulmonary findings in Down Syndrome
Pulmonary HTN Intermittent hypoxia Obstructive sleep apnea Recurrent PNA
84
GI findings in Down Syndrome
Duodenal atresia Chronic constipation Hirschprung Disease Celiac
85
MSK findings in Down Syndrome
Short stature, HYPOtonia, joint laxity, short hands, transverse palmar crease (Simian line), space between 1st and 2nd toes

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