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Flashcards in Multisystem and Genetic Disorders Deck (43)
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1

Which of the following is a characteristic physical sign of fragile X syndrome in adolescent males?
a) small posteriorly rotated ears
b) macroorchidism
c) hypertonia
d) double hair whorl

b) macroorchidism

2

Which of the following physical stigmata are common in newborns with Down syndrome?
a) microcephaly, large ears and mouth, flattened philtrum
b) hypotonia, large appearing tongue and small mouth, upward slant to eyes
c) fair mottled skin, large hands and feet, broad stocky neck
d) funnel or pigeon-breasted chest, brushfield spots, extra digits

b) hypotonia, large appearing tongue and small mouth, upward slant to eyes

3

A 2 mo infant with a history of myelomeningocele repair has an increase in head circumference from the 75th to the 95th percentile. What is the most appropriate first action?
a) order a stat head CT scan
b) refer to neurosurgery for management
c) recheck at the next well child visit
d) recheck and replot the child's head circumference

d) recheck and replot the child's head circumference

4

A 2 wo present with mucopurulent eye discharge with injection and edema of the conjuntiva. The 15 yo mother had no prenatal care. What is the most likely organism?
a) Staphylococcus aureus
b) Gonococcus
c) C. pneumoniae
d) C. Trachomatis

d) C. Trachomatis

5

A newborn presents with a large VSD, rocker bottom feet, overlapping second and third fingers, and fourth and fifth fingers with hypotonia. What is the most likely diagnosis?
a) Fragile x syndrome
b) Down syndrome
c) Edwards syndrome
d) Klinefelter's syndrome

c) Edwards syndrome

6

Which of the following problems is common in a child with Hurler's syndrome?
a) developmental delay from birth
b) sleep obstructive apnea
c) ectopic lentis
d) congenital heart disease

b) sleep obstructive apnea

7

Young infants with cerebral palsy often show:
a) voracious appetite and weight gain
b) increased muscle tone the first weeks of life
c) hypotonia in the first weeks of life
d) unusually severe reactions to their first immunizations

c) hypotonia in the first weeks of life

8

A 5 yo child born at 28 weeks gestation has mild spastic diplegia. Which evaluation is important before the child is placed in regular kindergarten?
a) Stanford-Binet IQ test
b) Carey Scale of temperament
c) CBC with differential
d) chromosome studies

a) Stanford-Binet IQ test

9

A mother with Marfan syndrome comes with her 5 yo for a checkup. The child has myopia and a positive wrist and thumb sign. She reports that she was told by her last healthcare provider not to worry about this child. What is the next best step?
a) raise the issue of a genetic referral
b) reassure her
c) follow the child for further signs of Marfan syndrome
d) refer to ophthalmology

a) raise the issue of a genetic referral

10

Which of the following is appropriate advice for the mother of a newborn?
a) the child should sleep on her back
b) the child should sleep on her back or side
c) it is ok for the child to sleep in a car seat at night
d) the child can sleep on her comforter

a) the child should sleep on her back

11

A 5 yo female presents for a school physical with a complaint of hyperactivity, mild developmental delay, aversion of gaze, hand mannerism, long thin face with a slightly dysmorphic ear. What is the most likely diagnosis?
a) Fragile X
b) Turner's syndrome
c) Fetal alcohol syndrome
d) Williams syndrome

a) Fragile X

12

Congenital HIV infection:
a) is diagnosed through finding maternal antibodies in infant serum
b) does not respond to antiretroviral therapy
c) may be latent for years before clinical signs develop
d) does not include lymphadenopathy as a physical finding

c) may be latent for years before clinical signs develop

13

An infant presents with cataracts, congenital glaucoma, congenital heart disease, hepatosplenomegaly, thrombocytopenia, blueberry muffin rash, and growth retardation. What is the most likely diagnosis?
a) cytomegalovirus
b) toxoplasmosis
c) rubella syndrome
d) syphilis

c) rubella syndrome

14

A well appearing, well-dressed 11 mo has a long philtrum, midface hypoplasia, microcephaly, mild developmental delay, and myopia. The mother denies drinking alcohol during the pregnancy. What is the next best step?
a) refer to child protective services
b) refer to early intervention
c) refer to cardiology
d) refer to alcoholics anonymous

b) refer to early intervention

15

An 18 mo child exposed to HIV in utero had negative HIV DNA at 2 weeks and 8 weeks. What is indicated at the 18 month visit?
a) no further testing needed
b) HIV DNA should be repeated
c) enzyme immunoassay for antibody to HIV-1
d) CBC with differential and immunoglobulins

c) enzyme immunoassay for antibody to HIV-1

16

Which of the following infant diseases is not associated with exposure in the first trimester of pregnancy?
a) CMV
b) Chlamydia conjunctivitis
c) Toxoplasmosis
d) Rubella

b) Chlamydia conjunctivitis

17

A baby is born to a mother with chronic hepatitis B. What is the best treatment approach?
a) administer interferon within 24 hours
b) administer hepatitis vaccine within 24 hours
c) administer interferon and nucleotide in combination daily
d) administer HBIG and hepatitis B vaccine within 12 hours

d) administer HBIG and hepatitis B vaccine within 12 hours

18

A 2 yo female has lymphedema of the hands and feet with a low posterior hairline, cubitus valgus, and a history of intrauterine growth retardation. Which of the following defects is the most common in children with this defect?
a) aortic valve stenosis
b) mitral valve prolapse
c) dissecting aortic aneurysm
d) coarctation of the aorta

d) coarctation of the aorta

19

A 9 mo male of Louisiana-French descent stopped rolling over. Mother reports he is increasingly irritable. which of the following PE findings is most consistent with Tay-Sachs disease?
a) cardiomyopathy
b) retinal detachment
c) "cherry red" spot on the retina
d) hepatomegaly

c) "cherry red" spot on the retina

20

Prader-Willi syndrome is a congenital genetic disorder characterized by:
a) failure to thrive
b) 100% detection rate with chromosome analysis for a 15q deletion
c) emergence of spasicity during toddler years
d) voracious appetite and development of obesity

d) voracious appetite and development of obesity

21

A 15 do infant with respiratory distress arrives in the ED. The exam reveals mild cyanosis, hepatoplenomegaly, and features consistent with Down syndrome. Which of the following is the most likely diagnosis?
a) complete AV canal
b) patent ductus arteriosus
c) ASD
d) ventricular septal defect

a) complete AV canal

22

A newborn presents with lymphadenopathy, a decrease in the ability to move the left leg, coombs-negative hemolytic anemia, hepatomegaly, and snuffles. What is the most likely diagnosis?
a) congenital herpes infection
b) congenital CMV infection
c) congenital syphilis
d) congenital gonococcal infection

c) congenital syphilis

23

Individuals who have spina bifida are at high risk for allergy to:
a) eggs
b) pollens
c) latex
d) dust mite feces

c) latex

24

What is the preferred treatment of choice for syphilis?
a) erythromycin
b) penicillin
c) cefotaxime
d) zithromax

b) penicillin

25

Which of the following is consistent with neonatal disseminated herpes disease?
a) hyperactive newborn with apparent spasicity
b) multiple papules scattered over body
c) fever, grouped vesicles on skin
d) purpuric rash in an acral distribution

c) fever, grouped vesicles on skin

26

A 2 mo presents after an episode of sepsis for a f/u visit. He has gained 2 lbs since birth and has a decrease in head circumference from the 50th to the 25th percentile. In addition, he has inguinal and axillary adenopathy of 1 cm and has hepatomegaly. Which of the following is included in the infectious disease differential?
a) herpes simplex type 2
b) HIV
c) chlamydia
d) congenital gonorrhea

b) HIV

HIV can present with lymphadenopathy, poor weigh gain, decreased head circumference, and serious bacterial infections.

27

Which of the following is the most helpful in confirming a diagnosis of Chlamydia pneumoniae in a 1 mo child with a cough?
a) chest x-ray showing lobar consolidation
b) decrease serum immunoglobulins
c) lymphocytosis
d) mother with no prenatal care

d) mother with no prenatal care

The lack of prenatal care is a risk factor for chlamydia pneumonitis. The child with chlamydia will have elevated immunoglobulins.

28

A social worker brings a child in prior to placement with a chief complaint of copious vaginal discharge. A culture is positive for chlamydia. From the social perspective what is the next best step?
a) reassure the social worker that this is a prenatal transmission
b) tell the social worker the result and allow her to decide the next step
c) tell the social worker the result and inform her of the likelihood of sexual abuse
d) call the foster family with the result

c) tell the social worker the result and inform her of the likelihood of sexual abuse

29

Which of the following is a nontreponemal test for syphilis?
a) Venereal disease research laboratory (VDRL)
b) Florescent treponemal antibody absorbed (FTA-ABS)
c) Treponema pallidum particle agglutination (TP-PA)
d) TORCH titer

a) Venereal disease research laboratory (VDRL)

Usually a nontreponemal test (VDRL, RPR) is performed first and if it is reactive then a treponemal test is done. The most used treponemal test is the FTA-ABS.

30

Which anticipatory guidance would be helpful in decreasing the risk of toxoplasmosis?
a) when camping treat water from streams with iodine
b) do not go barefoot in high risk areas
c) wash hands after changing cat litter
d) avoid handling contaminated diapers

c) wash hands after changing cat litter

Pregnant women should avoid contact with cat litter.