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Peds II > Exam 2 - Genetics > Flashcards

Exam 2 - Genetics Flashcards

1
Q

Is Osteogensis Imperfecta autosomal recessive or autosomal dominant?

A

Autosomal dominant

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2
Q

The majority of OI cases involve mutations in genes alpha-1 and alpha-2 chains of _______?

A

Type I collagen

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3
Q

What genetic disorder is associated with the following clinical presentation:

  • Excessive/atypical fractures
  • Blue sclerae
  • Progressive hearing loss
  • Short stature
  • Limb deformities
  • Opalescent teeth
  • Ligament and skin laxity
A

Osteogenesis Imperfecta

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4
Q

What may be seen on imaging in children with OI?

A
  • Fractures at various stages of healing
  • Wormian bones
  • “Codfish vertebrae”
  • Osteopenia
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5
Q

What is a common lab finding in OI and what does it relate to?

A

Hypercalcemia is common and relates to severity

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6
Q

What is the medication management for OI?

A

Bisphosphonates (Pamidronate)

  • IV infusion every 3 months: 4 hours daily for 3 days
  • Slows done bone reabsorption and increases density
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7
Q

Which type of OI is the most severe?

A

Type II

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8
Q

How is OI diagnosed?

A

Biochemical testing of collagen

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9
Q

Is Marfan Syndrome autosomal recessive or autosomal dominant?

A

Autosomal dominant

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10
Q

What is the genetic mutation involved in Marfan Syndrome?

A

Connective tissue protein: FBN1 (fibrillin)

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11
Q

What genetic disorder is associated with the following clinical presentation:

  • Tall and thin with increased arm span to height ratio
  • Arachnodactyly
  • Hypermobile joints with laxity
  • Pectus deformity
  • Soliosis
A

Marfan Syndrome

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12
Q

What are three major concerns associated with Marfan Syndrome/what are these individuals predisposed to?

A
  • Aortic root dilation/dissection (aortic rupture risk)
  • Spontaneous pneumothorax
  • Optic lens subluxation/dislocation (ectopia lentis)
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13
Q

What diagnostic study should be performed in a patient with Marfan Syndrome for routine evaluation and monitoring? Why?

A

Echo and EKG due to associated aortic root dilation/dissection and risk of aortic rupture

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14
Q

What is the medication management for Marfan Syndrome? What are other management recommendations?

A

Beta blocker

Strenuous activity restrictions

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15
Q

What is the etiology behind Prader-Willi Syndrome?

A
  • Absence of paternal gene expression on chromosome 15 (75% of cases)

OR

  • Two copies of chromosome 15 inherited from other (Maternal disomy)
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16
Q

The following clinical presentation is associated with what genetic disorder?

  • Almond shaped eyes
  • Short stature
  • Hypogonadism
  • Food seeking behavior
  • Intellectual disability
  • Behavioral problems
A

Prader-Willi Syndrome

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17
Q

What is the symptomatic progression of Prader-Willi Syndrome in an infant to early childhood?

A

Infants:
Profound hypotonia with feeding difficulties and failure to thrive

Early childhood:
Hyperphagia and weight gain with binge eating

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18
Q

How is Prader-Willi Syndrome diagnosed?

A

Molecular genetic testing via methylation analysis

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19
Q

What is the management for Prader-Willi Syndrome?

A

Limited:

  • Hormones
  • Diet/exercise
  • Therapy
20
Q

What are some complications that can occur in Prader-Willi Syndrome?

A
  • Obesity
  • Type 2 Diabetes
  • Heart disease
  • Sleep apnea
  • Joint destruction
21
Q

What is the most common inherited intellectual disability?

22
Q

What is the inheritance pattern of Fragile X?

A

X-linked Recessive with higher incidence in males

23
Q

The following clinical presentation is associated with what genetic disorder?

  • Young male
  • Developmental delay
  • Large ears and long narrow face
  • Strabismus
  • Macrocephaly with prominent forehead and chin
24
Q

What pre-mutations are associated with Fragile X?

A
  • Primary ovarian insufficiency (FXPOI)

- Tremor/ataxia syndrome (FXTAS)

25
What is the genetic defect associated with DiGeorge Syndrome?
Chromosome 22 defect (deletion syndrome)
26
What is the classic triad of signs of symptoms associated with DiGeorge Syndrome?
- Cardiac abnormalities - Hypoplastic thymus: variable T-cell deficits - Hypocalcemia
27
The following clinical presentation is associated with what genetic disorder? - Palatal defects (speech delay) - GU abnormalities - Craniofacial abnormalities - Recurrent infections and inflammatory diseases
DiGeorge Syndrome
28
How is DiGeorge Syndrome diagnosed?
Decreased CD3 + T cells + clinical findings
29
What is characteristic of a patient with Complete DiGeorge Syndrome and why does this cause concern?
Thymus is absent causing the patient to be very immunocompromised - Caution with live vaccines
30
What is the treatment for Complete DiGeorge Syndrome?
- Thymic transplant - HCT (hematopoietic cell transplant) *Life expectancy in infant is less than 1 year without treatment
31
Is DiGeorge Syndrome autosomal dominant or recessive?
Autosomal dominant, but most often occurs randomly
32
What is the clinical presentation of postpubertal Klinefelter Syndrome?
- Tall stature - Narrow shoulders - Microorchidism - Gynecomastia
33
What will labs show in Klinefelter Syndrome?
- Low testosterone | - FSH/LH elevated in adolescents
34
What disorder are those with Turner Syndrome at a higher risk of developing?
X-linked recessive disorders such as Hemophilia A/B
35
The following clinical features are associated with what genetic disorder? - Short stature - Webbed neck - Broad chest with wide spaced nipples (shield chest)
Turner's Syndrome
36
The following clinical features are associated with what genetic disorder? - Streaked gonads - Horseshoe kidney - Coarctation of the aorta
Turner's Syndrome
37
What is the clinical name for Trisomy 13 and what is the defect?
Patau Syndrome Defect is prechordal mesoderm: midline craniofacial, eyes, forebrain
38
The following clinical presentation is associated with what genetic disorder? - Midline cleft and palate - Holoprosencephaly - Hypotonia - CHD - Vertical talus "rocker bottom"
Trisomy 13 (Patau Syndrome)
39
What is the treatment for Trisomy 13?
Aggressive surgical treatment can prolong life up to 2 years of age, but currently supportive care is recommended. Majority die in utero and affected infants usually die before 1 month of age.
40
What is the clinical name for Trisomy 18 and what sex is it more dominant in?
Edwards Syndrome Female
41
The following clinical presentation is associated with what genetic disorder? - Low birth weight - Microcephaly - Small jaw/mouth - Low set ears - Hypertonia/spasticity - CHD - Horseshoe kidney - Rocker bottom foot deformity
Trisomy 18 (Edwards Syndrome)
42
What is the treatment for Trisomy 18?
Majority die in utero and 50% that survive die within 2 weeks of age. School age and adulthood are possible, but will have severe intellectual disability.
43
What is the clinical name for Trisomy 21 and what is a maternal risk factor for it?
Down Syndrome Advanced maternal age is risk factor
44
The following clinical presentation is associated with what genetic disorder? - Flat nasal bridge - Short stature - Hypotonia - Transverse palmar crease - Brachycephaly - Brushfield Spots - Protruding furrowed tongue - Short neck with excessive skin
Trisomy 21 (Down Syndrome)
45
What are some complications that those with Trisomy 21 are at risk for?
- Visual and hearing loss - CHD - Duodenal atresia - Hirschsprung disease - Celiac disease - Pulmonary HTN - Obstructive sleep apnea
46
What prenatal screening should all pregnant women be offered and by what week of gestation?
All women should be offere aneuploidy screening by 20 weeks gestation

Peds II (11 decks)

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