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You are awakened in the night by your 2-year-old son, who has developed noisy
breathing on inspiration, marked retractions of the chest wall, flaring of the nostrils,
and a barking cough. He has had a mild upper respiratory infection (URI) for 2 days.
The most likely diagnosis is
1. Asthma
2. Epiglottitis
3. Bronchiolitis
4. Viral croup
5. Foreign body in the right mainstem bronchus
A 2-month-old child is evaluated for failure to thrive. During the examination, the
child has a seizure. Stat serum chemistries demonstrate severe hypoglycemia,
hyperlipidemia, lactic acidosis, and ketosis. Physical examination is remarkable for
hepatomegaly, a finding confirmed by CT scan, which also reveals renomegaly.
Which of the following diseases best accounts for this presentation?
(A) Gaucher disease
While rounding in the neonatal nursery, a routine physical exam on an infant reveals
aniridia and genital malformations. For which condition should this infant be screened?
b) Dysthymic syndrome
c) Deaf-mutism
d) Autism
e) Cerebral palsy
An infant is noted to have epicanthal folds, a broad nasal bridge, a large tongue, small
ears, hypertelorism, Brushfield spots, a single palmar crease on each hand, and a harsh
holosystolic murmur. What is the most common cause of this syndrome?
a. Deletion in the short arm of chromosome 5
b. Maternal meiotic nondisjunction
c. Paternal meiotic nondisjunction
d. Robertsonian translocation
e. Triploidy
An infant is rushed to the ER for profuse vomiting and you are asked to evaluate
him. You notice that the vomitus is bile tinged, and you become concerned about a
possible congenital anomaly. What is the most likely diagnosis?
a. Esophageal atresia
b. Hypertrophic pyloris stenosis
c. Imperforated anus
d. Midgut malrotation with volvulus
e. Pulmonary hypoplasia
An infant is noted to have epicanthal folds, a broad nasal bridge, a large tongue, small
ears, hypertelorism, Brushfield spots, a single palmar crease on each hand, and a harsh
holosystolic murmur. What is the most common cause of this syndrome?
While bathing her 2-year-old son, a mother feels a mass in his abdomen. A
thorough medical evaluation of the child reveals aniridia, hypospadias, horseshoe
kidney, and hemihypertrophy. The most likely diagnosis for this child is
1. Neuroblastoma
2. Wilms tumor
3. Hepatoblastoma
4. Rhabdomyosarcoma
5. Testicular cancer
A 2-day-old infant is brought to your office by his mother, who says she has been
noticing copius amounts of blood in his stool for the past 2 days. The patient is
tachycardic but has not been experiencing any pain. What embyronic structure is
likely to be responsible for this patient's condition?
a. Ductus Arteriosus
b. Ductus Venosus
. Umbillical Artery
d. Urachus
e. Vitelline Duct