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PRM Board Exam > Genetics > Flashcards

Genetics Flashcards

1
Q

What are three signs of a chromosome abnormality

A

dysmorphic features, congenital malformations, developmental delay

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2
Q

Chromosomal syndrome that presents with hypotonia, cardiac defects, and a single palmar crease?

A

Trisomy 21 (Down syndrome)

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3
Q

Chromosomal syndrome that presents with rocker-bottom feet and spasticity?

A

Trisomy 18 (Edwards syndrome)

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4
Q

Chromosomal syndrome that presents with rocker-bottom feet, urinary tract abnormalities, and cleft palate?

A

Trisomy 13 (Patau’s syndrome)

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5
Q

Chromosomal abnormality that presents with short stature, webbed neck, lymphedema of hands/feet, and congenital heart disease?

A

Turner’s syndrome (45, X)

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6
Q

Chromosomal abnormality that presents with tall stature, gynecomastia, and learning/behavioral problems?

A

Klienfelter’s syndrome (47, XXY)

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7
Q

What are three broad categories of proven teratogens?

A

infectious agents (TORCHES), Drugs, Maternal diseases (DM)

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8
Q

What are short palpebral fissures?

A

small eye openings

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9
Q

What is hypertelorism?

A

widely spaced eyes

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10
Q

What is camptodactyly?

A

fixed flexion contractures of the PIPs or DIPs

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11
Q

What is clinodactyly?

A

digit is laterally curved

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12
Q

What is brachydactyly?

A

short middle finger

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13
Q

What is the least restrictive orthotic that supports the arch but not the subtalar joint?

A

UCBL

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14
Q

What ankle joint does a SMO not support?

A

talocrural in A-P direction

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15
Q

What metabolic disease presents with macrocephaly, subdural hemorrhages and retinal hemorrhages that can be mistaken for non accidental trauma?

A

Glutaric Aciduria Type I (GA-I)

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16
Q

What is the cause of severe dystonia superimposed on generalized hypotonia in glutaric acuduria type I (GA-I) which can cause a misdiagnosis as CP?

A

striatal necrosis (usually 3 month to 3 years)

17
Q

When does self mutilation emerge in Lesch-Nyhan syndrome?

A

2 to 3 years old

18
Q

What metabolic disorder presents with truncal hypotonia, dystonia, and orange sediment in the diaper?

A

Lesch-Nyhan syndrome

19
Q

What is the pathogenies of hereditary spastic paraplegia?

A

axonal degeneration of the long fibers of the corticospinal tract

20
Q

In addition to spasticity and weakness, what are 3 other symptoms that can be seen in nonsyndromic HSP?

A

paresthesias, decreased vibration sense, and urinary urgency

21
Q

What metabolic disorder presents with spastic paraparesis and toe walking between 2 to 4 years old and can be misdiagnosed as CP?

A

arginase deficiency

22
Q

What is the treatment for arginase deficiency?

A

protein-restricted diet

23
Q

What are brain imaging findings in arginase deficiency?

A

atrophy and abnormal myelination

24
Q

What presents with gait and limb ataxia around 12 years old?

A

Friedrich Ataxia

25
Q

What is the genetic abnormality seen in Friedrich Ataxia?

A

GAA trinucleotide repeat

26
Q

What are 3 medical complications seen with Friedrich Ataxia?

A

hypertrophic cardiomyopahty, diabetes mellitus, and overactive bladder

27
Q

What are three types of exercise that should be avoided in McArdle Disease due to dependence on anaerobic glycolysis?

A

high-intensity, isometric, and weightlifting

28
Q

What metabolic disorder is often misdiagnosed at ADHD?

A

X-linked Adrenoleukodystrophy

29
Q

What presents with seizures, migraines and weakness with patchy lesions on MRI in a 10 year old?

A

Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)

30
Q

What are three orthopedic problems seen in Prader-Willi syndrome?

A

scoliosis, genu varum, and limb malalignment

31
Q

What is the standard of care for Prader-Willi syndrome?

A

growth hormone

32
Q

What are two primary movement deficits seen in Angelman Syndrome?

A

ataxia and spasticity

33
Q

What X-linked disorder presents with rapid regression, stereotypic movements, and self-injurious behavior in female between 1 and 4 years old?

A

Rett Syndrome

34
Q

What percentage of Down syndrome patient have A-A instability?

A

about 15%

35
Q

What is another name for Mucopolysaccharidosis Type IV?

A

Morquio syndrome

36
Q

What 5 orthopedic abnormalities are seen in Morquio syndrome?

A

short stature, A-A instability, scoliosis, hip dysplasia, genu valgum

37
Q

What can cause weakness and spasticity in a patient with Morquio syndrome?

A

myelopathy due to spinal cord compression

38
Q

How often should patients with Mucopolysaccharidosid Type I and II get MRI to evaluate for cervical instability or spinal stenosis?

A

at least twice a year

39
Q

What are two musculoskeletal abnormalities seen in children with Fragile X?

A

hypotonia and joint hypermobility

PRM Board Exam (17 decks)

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