Genetics

Question 1

What are three signs of a chromosome abnormality

Answer 1

dysmorphic features, congenital malformations, developmental delay

Question 2

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

Answer 2

Trisomy 21 (Down syndrome)

Question 3

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

Answer 3

Trisomy 18 (Edwards syndrome)

Question 4

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

Answer 4

Trisomy 13 (Patau’s syndrome)

Question 5

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

Answer 5

Turner’s syndrome (45, X)

Question 6

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

Answer 6

Klienfelter’s syndrome (47, XXY)

Question 7

What are three broad categories of proven teratogens?

Answer 7

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

Question 8

What are short palpebral fissures?

Answer 8

small eye openings

Question 9

What is hypertelorism?

Answer 9

widely spaced eyes

Question 10

What is camptodactyly?

Answer 10

fixed flexion contractures of the PIPs or DIPs

Question 11

What is clinodactyly?

Answer 11

digit is laterally curved

Question 12

What is brachydactyly?

Answer 12

short middle finger

Question 13

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

Answer 13

UCBL

Question 14

What ankle joint does a SMO not support?

Answer 14

talocrural in A-P direction

Question 15

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

Answer 15

Glutaric Aciduria Type I (GA-I)

Question 16

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?

Answer 16

striatal necrosis (usually 3 month to 3 years)

Question 17

When does self mutilation emerge in Lesch-Nyhan syndrome?

Answer 17

2 to 3 years old

Question 18

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

Answer 18

Lesch-Nyhan syndrome

Question 19

What is the pathogenies of hereditary spastic paraplegia?

Answer 19

axonal degeneration of the long fibers of the corticospinal tract

Question 20

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

Answer 20

paresthesias, decreased vibration sense, and urinary urgency

Question 21

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

Answer 21

arginase deficiency

Question 22

What is the treatment for arginase deficiency?

Answer 22

protein-restricted diet

Question 23

What are brain imaging findings in arginase deficiency?

Answer 23

atrophy and abnormal myelination

Question 24

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

Answer 24

Friedrich Ataxia

Question 25

What is the genetic abnormality seen in Friedrich Ataxia?

Answer 25

GAA trinucleotide repeat

Question 26

What are 3 medical complications seen with Friedrich Ataxia?

Answer 26

hypertrophic cardiomyopahty, diabetes mellitus, and overactive bladder

Question 27

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

Answer 27

high-intensity, isometric, and weightlifting

Question 28

What metabolic disorder is often misdiagnosed at ADHD?

Answer 28

X-linked Adrenoleukodystrophy

Question 29

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

Answer 29

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

Question 30

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

Answer 30

scoliosis, genu varum, and limb malalignment

Question 31

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

Answer 31

growth hormone

Question 32

What are two primary movement deficits seen in Angelman Syndrome?

Answer 32

ataxia and spasticity

Question 33

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

Answer 33

Rett Syndrome

Question 34

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

Answer 34

about 15%

Question 35

What is another name for Mucopolysaccharidosis Type IV?

Answer 35

Morquio syndrome

Question 36

What 5 orthopedic abnormalities are seen in Morquio syndrome?

Answer 36

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

Question 37

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

Answer 37

myelopathy due to spinal cord compression

Question 38

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

Answer 38

at least twice a year

Question 39

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

Answer 39

hypotonia and joint hypermobility