Multisystem and Genetic Disorders

Question 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

Answer 1

b) macroorchidism

Question 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

Answer 2

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

Question 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

Answer 3

d) recheck and replot the child’s head circumference

Question 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

Answer 4

d) C. Trachomatis

Question 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

Answer 5

c) Edwards syndrome

Question 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

Answer 6

b) sleep obstructive apnea

Question 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

Answer 7

c) hypotonia in the first weeks of life

Question 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

Answer 8

a) Stanford-Binet IQ test

Question 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

Answer 9

a) raise the issue of a genetic referral

Question 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

Answer 10

a) the child should sleep on her back

Question 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

Answer 11

a) Fragile X

Question 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

Answer 12

c) may be latent for years before clinical signs develop

Question 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

Answer 13

c) rubella syndrome

Question 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

Answer 14

b) refer to early intervention

Question 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

Answer 15

c) enzyme immunoassay for antibody to HIV-1

Question 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

Answer 16

b) Chlamydia conjunctivitis

Question 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

Answer 17

d) administer HBIG and hepatitis B vaccine within 12 hours

Question 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

Answer 18

d) coarctation of the aorta

Question 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

Answer 19

c) “cherry red” spot on the retina

Question 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

Answer 20

d) voracious appetite and development of obesity

Question 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

Answer 21

a) complete AV canal

Question 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

Answer 22

c) congenital syphilis

Question 23

Individuals who have spina bifida are at high risk for allergy to:

a) eggs
b) pollens
c) latex
d) dust mite feces

Answer 23

c) latex

Question 24

What is the preferred treatment of choice for syphilis?

a) erythromycin
b) penicillin
c) cefotaxime
d) zithromax

Answer 24

b) penicillin

Question 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

Answer 25

c) fever, grouped vesicles on skin

Question 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

Answer 26

b) HIV

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

Question 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

Answer 27

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.

Question 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

Answer 28

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

Question 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

Answer 29

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.

Question 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

Answer 30

c) wash hands after changing cat litter

Pregnant women should avoid contact with cat litter.

Question 31

What PE finding distinguishes a newborn with congenital toxoplasmosis from a newborn with congenital CMV?

a) jaundice
b) microcephaly
c) cerebral calcifications
d) petechial rash

Answer 31

d) petechial rash

A petechial rash is common in CMV but rare in toxoplasmosis.

Question 32

What congenital infection can present with snuffles, lyphadenopathy, pseudoparalysis of Parrot, CNS abnormalities, and low birth weight?

a) cytomegalovirus
b) rubella
c) toxoplasmosis
d) syphilis

Answer 32

d) syphilis

Question 33

A child presents with a flattened philtrum, thin upper lip, micrognathia, strabismus, and a ventricular septal defect. What is the most likely diagnosis?

a) congenital toxoplasmosis
b) congenital syphilis
c) fetal alcohol syndrome
d) Edwards syndrome

Answer 33

c) fetal alcohol syndrome

Question 34

Hyperactivity, mild developmental delay, aversion of gaze, hand mannerism, and long thin face with a slightly dysmorphic ear. Diagnosis?

a) Fragile x
b) Turner’s syndrome
c) fetal alcohol syndrome
d) William’s syndrome

Answer 34

a) Fragile x

Question 35

Which of the following PE findings is a major criterion for identifying a patient with Marfan syndrome?

a) brushfield spots
b) shield chest with widely spaced nipples
c) pectus excavatum requiring surgery
d) large testicles

Answer 35

c) pectus excavatum requiring surgery

Question 36

Which of the following is found more commonly in children with a meningomyelocele?

a) congenital heart disease
b) latex allergy
c) intestinal malformations
d) cleft palate

Answer 36

b) latex allergy

Question 37

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) coarctation of the aorta
c) mitral valve prolapse
d) dissecting aortic aneurysm

Answer 37

b) coarctation of the aorta

Question 38

Which of the following screenings is done annually on a 4 yo child with Down syndrome?

a) cervical spine
b) urinalysis
c) celiac screening
d) thyroid screening

Answer 38

d) thyroid screening

Children with Down syndrome are at greater risk for thyroid disease and leukemia and should receive thyroid screening yearly. Atlantoaxial dislocation can be screened for at 3 years of age.

Question 39

A 6 yo child has +4 reflexes, toe walking, and a clumsy gait. Which of the following diagnostic testing would be helpful in making a diagnosis of CP?

a) skull x-ray
b) head CT
c) MRI of the head
d) MRI of the lumbosacral spine

Answer 39

c) MRI of the head

MRI of the brain is the most helpful in children with suspected CP and about 90% will show some abnormalities including major and minor brain malformation, strokes, and white matter loss.

Question 40

What hormone needs replacement in adolescents with Klinefelter’s syndrome?

a) thyroid hormone
b) growth hormone
c) estrogen
d) testostorone

Answer 40

d) testostorone

Testosterone is needed due to inadequate virilization.

Question 41

A 9 mo child of Jewish parents present with increasing irritability and noise sensitivity. What is the next best step?

a) encourage mom to decrease environmental stimuli
b) refer to a pediatrician
c) refer for further developmental screening
d) reevaluate at the 12 month examination

Answer 41

b) refer to a pediatrician

A consultation with a pediatrician is indicated due to the possibility of Tay-Sach’s disease.

Question 42

A newborn presents with microcephaly, low-set ears, prominent occiput, micrognathia, heart murmur, and clenched hands with overriding fingers and crossed thumb. What is the best diagnostic test?

a) karyotype
b) amino acid urine screen
c) newborn screening
d) methylation test

Answer 42

a) karyotype

Edward’s syndrome is caused by trisomy of chromosome 18 which can be evaluated with a karyotype.

Question 43

A 2.5 yo child presents with macrocephaly, developmental delay, coarse facial features, large tongue, kyphosis, hip dislocation, tonsillar and adenoidal hypertrophy, and hepatomegaly. She is receiving early intervention services without improvement. What is the next best step?

a) Referral to genetics for further evaluation
b) follow up in 3 months
c) reassure the parents
d) follow up in 6 months

Answer 43

a) Referral to genetics for further evaluation

This child has many of the signs of Hurler’s syndrome; a referral to genetics would be appropriate.