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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?

A

Fragile X

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
A

Fragile X

24
Q

What pre-mutations are associated with Fragile X?

A
  • Primary ovarian insufficiency (FXPOI)

- Tremor/ataxia syndrome (FXTAS)

25
Q

What is the genetic defect associated with DiGeorge Syndrome?

A

Chromosome 22 defect (deletion syndrome)

26
Q

What is the classic triad of signs of symptoms associated with DiGeorge Syndrome?

A
  • Cardiac abnormalities
  • Hypoplastic thymus: variable T-cell deficits
  • Hypocalcemia
27
Q

The following clinical presentation is associated with what genetic disorder?

  • Palatal defects (speech delay)
  • GU abnormalities
  • Craniofacial abnormalities
  • Recurrent infections and inflammatory diseases
A

DiGeorge Syndrome

28
Q

How is DiGeorge Syndrome diagnosed?

A

Decreased CD3 + T cells + clinical findings

29
Q

What is characteristic of a patient with Complete DiGeorge Syndrome and why does this cause concern?

A

Thymus is absent causing the patient to be very immunocompromised
- Caution with live vaccines

30
Q

What is the treatment for Complete DiGeorge Syndrome?

A
  • Thymic transplant
  • HCT (hematopoietic cell transplant)

*Life expectancy in infant is less than 1 year without treatment

31
Q

Is DiGeorge Syndrome autosomal dominant or recessive?

A

Autosomal dominant, but most often occurs randomly

32
Q

What is the clinical presentation of postpubertal Klinefelter Syndrome?

A
  • Tall stature
  • Narrow shoulders
  • Microorchidism
  • Gynecomastia
33
Q

What will labs show in Klinefelter Syndrome?

A
  • Low testosterone

- FSH/LH elevated in adolescents

34
Q

What disorder are those with Turner Syndrome at a higher risk of developing?

A

X-linked recessive disorders such as Hemophilia A/B

35
Q

The following clinical features are associated with what genetic disorder?

  • Short stature
  • Webbed neck
  • Broad chest with wide spaced nipples (shield chest)
A

Turner’s Syndrome

36
Q

The following clinical features are associated with what genetic disorder?

  • Streaked gonads
  • Horseshoe kidney
  • Coarctation of the aorta
A

Turner’s Syndrome

37
Q

What is the clinical name for Trisomy 13 and what is the defect?

A

Patau Syndrome

Defect is prechordal mesoderm: midline craniofacial, eyes, forebrain

38
Q

The following clinical presentation is associated with what genetic disorder?

  • Midline cleft and palate
  • Holoprosencephaly
  • Hypotonia
  • CHD
  • Vertical talus “rocker bottom”
A

Trisomy 13 (Patau Syndrome)

39
Q

What is the treatment for Trisomy 13?

A

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
Q

What is the clinical name for Trisomy 18 and what sex is it more dominant in?

A

Edwards Syndrome

Female

41
Q

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
A

Trisomy 18 (Edwards Syndrome)

42
Q

What is the treatment for Trisomy 18?

A

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
Q

What is the clinical name for Trisomy 21 and what is a maternal risk factor for it?

A

Down Syndrome

Advanced maternal age is risk factor

44
Q

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
A

Trisomy 21 (Down Syndrome)

45
Q

What are some complications that those with Trisomy 21 are at risk for?

A
  • Visual and hearing loss
  • CHD
  • Duodenal atresia
  • Hirschsprung disease
  • Celiac disease
  • Pulmonary HTN
  • Obstructive sleep apnea
46
Q

What prenatal screening should all pregnant women be offered and by what week of gestation?

A

All women should be offere aneuploidy screening by 20 weeks gestation

Peds II (11 decks)

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