13. an infant presents with cataracts, congetinal glaucoma, congenital heart disease, hepatosplenomegaly,
thrombocytopenia, blueberry muffin rash, & growth retardation. What is the most likely diagnosis?
a. Cytomegalovirus
b. Taxoplasmosis
c. Rubella syndrome
d. Syphilis
c
14. A well-appearing, well dressed 11mo old has a long philtrum, midface hypoplasia, microcephaly, mild
developmental delay, & myopia. The mother denies drinking alcohol during the pregnancy. What is the next best step?
a. Refer the mother-child to child protective services
b. Refer the child to early intervention
c. Refer the child to cardiology
d. Refer the mother to alcoholics anonymous
b
15. An 18mo old 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 is needed
b. HIV DNA should be repeated
c. Enzyme immunoassay for antibody to HIV-1
d. CBC with diff & immunoglobulins
c
17. A baby is born to a mother with chronic hepatitis B. what is the best treatment approach?
a. Administer interferon within 24hrs
b. Administer hepatitis B vaccine within 24hrs
c. Administer interferon & nucleotide in combination daily
d. Administer HBIG & Hepatitis B vaccine within 12 hours
d
18. a 2yo female has lymphedema of the hands & foot, with low posterior hairline, cubitus valgus, & a hx of
intrauterine growth retardation. Which of the following defects is the most common among the children with this
defect?
a. Aortic valve stenosis
b. Mitral valve prolapse
c. Dissecting aortic aneurysm
d. Coarctation of the aorta
d
19. Joshua is the 9mo old infant son of parents of Lousinana-French descent. The child stopped rolling over. Mother
reports he is increasingly irritable. Which of the following physical exam findings is most consistent with Tay-Sachs
disease?
a. Cardiomyopathy
b. Retinal detachment
c. "cherry red" spot on retina
d. hepatomegaly
c
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 spasticity during toddler years
d. voracious appetite & development of obesity
d
,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
7. Young infants with cerebral palsy often show:
a. Voracious appetite & weight gain
b. Increased muscle tone in the first weeks of life
c. Hypotonia in the first weeks of life
d. Unusually severe reactions to their first immunizations
c
8. A 5yo child is 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 diff
d. Chromosome studies
a
9. A mother with Marfan syndrome comes with her 5yo for a checkup. The child has myopia & a + wrist & thumb sign.
She reports that she was told by her last health care 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
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. The child should be allowed to sleep in a carseat at night
d. The child can sleep on her comforter
a
11. A 5yo female presents for a school physical with a complaint of hyperactivity, a mild developmental delay, aversion
of gaze, hand mannerism, long thing face with slightly dysmorphic ear. What is the likely diagnosis?
a. Fragile X
b. Turner's Syndrome
c. Fetal alcohol syndrome
d. Williams syndrome
a
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
,17. Which one of the following is not found in children with growth hormone excess?
a. Tall stature
b. Prominent mandible & supraorbital ridge
c. High or normal plasma growth hormone
d. Short stature
d
18. A pathognomonic skin finding in children with chronic adrenal insufficiency (Addison's) is:
a. Purple striae
b. Increased pigmentation in the axilla, groin, areola, hand creases, & in surgical scars
c. Dry, thickened skin
d. Increased perspiration
b
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 whirl
b
2. Which of the following physical stigmata are common in newborns with Down syndrome?
a. Microcephaly, large ears & mouth, flattened philtrum
b. Hypotonia, large appearing tongue & small mouth, upward slant to eyes
c. Fair mottled skin, large hands & feet, broad stocky neck
d. Funnel or pigeon-breasted chest, Brushfield spots, extra digits
b
3. a 2mo infant, with hx of sacral 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 it at the next well-child visit
d. Recheck & replot the child's head circumference
d
4. a 2 week old presents with mucopurulent eye discharge with injection and edema of the conjunctiva. The 15yr old
mother had no prenatal care. What is the most likely organism?
a. Staphylococcus aureus
b. Gonococcus
c. C. pneumoniae
d. C. trachomatis
d
5. a newborn presents with a large VSD, rocker bottom feet, overlapping second & third fingers, & fourth & 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
, 16. What type of hemorrhage would be expected with severe factor VIII deficiency?
a. Severe hemorrhage following moderate to severe trauma
b. Gross bleeding following mild to moderate trauma
c. Gynecologic hemorrhage
d. Spontaneous hemarthosis
d
17. Which of the following is the most common type of congenital bleeding disorder?
a. Hemophilia A
b. Hemophilia b
c. Von Willebrand Disease
d. Idiopathic thrombocytopenia purpura
c
26. The following is not a characteristic feature of DiGeorge syndrome:
a. Hypertelorism
b. Cleft palate
c. Cardiac defect
d. Frontal bossing
d
27. The following diagnostic finding is consistent with Wiskott-Aldrich syndrome:
a. IgG-normal
b. IgA-decreased
c. IgM-increased
d. B cells-decreased
a
10. Which one of the following is not characteristic of constitutional growth delay?
a. There is generally no hx of a similar growth pattern in other family members
b. The child usually remains constitutionally small as an adult
c. Final adult stature tends to be normal
d. Weight & height at birth are generally in the lower percentiles
c
11. A newborn or infant with birth length <50% and microphallus should be suspected of having:
a. Growth hormone deficiency
b. Congenital hypothyroidism
c. Primordial short stature
d. Down syndrome
a
12. An adolescent male who fails to develop secondary sex characteristics at puberty and who has small,
underdeveloped testes should be suspected of having:
a. Adrenal hyperplasia
b. Klinefelter's syndrome
c. Marfan syndrome
d. Cerebral gigantism (sotos syndrome)
b
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