Primary Care
**1. A small for gestational age, dysmorphic newborn infant has
microcephaly and sloping forehead, cutis aplasia (missing portion of the skin
and hair) of the scalp, polydactyly, microphthalmia, and omphalocele. Which
is the most likely diagnosis?**
A) Down syndrome (trisomy 21)
B) Edwards syndrome (trisomy 18)
C) Patau syndrome (trisomy 13)
D) Turner syndrome
**Correct Answer: C**
**Rationale:** Patau syndrome (trisomy 13) is characterized by severe
microcephaly, sloping forehead, cutis aplasia of the scalp, polydactyly,
microphthalmia, and omphalocele. These findings are classic for trisomy 13,
which has a very poor prognosis with most infants not surviving beyond the
first year of life.
---
**2. A 16-year-old girl has enuresis, frequent urination, a white vaginal
discharge, and a dark rash around her neck. Her serum glucose level is 250
mg/dL, and her urinalysis is positive for 2+ glucose but is otherwise
negative. Which is the most likely diagnosis?**
A) Type I diabetes mellitus
B) Urinary tract infection
C) Type II diabetes mellitus
,D) Polycystic ovary syndrome
**Correct Answer: C**
**Rationale:** This adolescent has classic findings of type 2 diabetes
mellitus: hyperglycemia (glucose 250 mg/dL), glucosuria, enuresis, and
acanthosis nigricans (the dark rash around the neck). The white vaginal
discharge likely represents a yeast infection, which is common with
hyperglycemia. Type 2 diabetes is increasingly common in obese
adolescents.
---
**3. Mark, age 15, is 5 feet tall and weighs 85 pounds. You suspect anorexia
nervosa. What is the best initial approach?**
A) Admit to the hospital immediately
B) Refer to a nutritionist only
C) Discuss the diagnosis with the parents first
D) Confront Mark with the fact that you suspect an eating disorder
**Correct Answer: D**
**Rationale:** A direct, non-judgmental confrontation about the suspected
eating disorder is the best initial approach. This allows the healthcare
provider to open a dialogue, assess the patient's readiness for treatment,
and gather more information. Hospitalization may be needed if there are
severe electrolyte abnormalities or vital sign instability.
---
,**4. Which of the following is NOT a sign or symptom of congenital
hypothyroidism?**
A) Prolonged jaundice
B) Macroglossia
C) Hoarse cry
D) Frequent stooling
**Correct Answer: D**
**Rationale:** Congenital hypothyroidism typically presents with
constipation, not frequent stooling. Other signs include prolonged jaundice,
macroglossia (large tongue), hoarse cry, umbilical hernia, poor feeding,
lethargy, and hypotonia. Frequent stooling is not a feature of hypothyroidism.
---
**5. While doing a 5-year-old well child exam, you notice two small patches
of hair loss. Broken hair is present, as is erythema and scaling. What is the
likely diagnosis?**
A) Trichotillomania
B) Alopecia areata
C) Tinea capitis
D) Traction alopecia
**Correct Answer: C**
, **Rationale:** Tinea capitis (fungal infection of the scalp) presents with
patches of hair loss, broken hairs, erythema, and scaling. It is a common
pediatric condition caused by dermatophytes. Treatment requires oral
antifungal therapy because topical agents do not penetrate the hair shaft
effectively.
---
**6. Hope is a 7-month-old who presents in January with a 1-day history of
cough, yellow nasal discharge, and low-grade fever (T max 100°F). She was
previously healthy. She has 2+ edema of the nasal turbinates and cloudy
rhinorrhea. She is afebrile in the office. Her chest, mouth, and ears are clear.
What should you prescribe?**
A) Antibiotics
B) Decongestants
C) Antihistamines
D) Saline drops, bulb suction, humidified air, and increased PO fluids
**Correct Answer: D**
**Rationale:** This infant has viral upper respiratory infection symptoms.
Supportive care is the mainstay of treatment: saline drops, bulb suction to
clear nasal passages, humidified air, and increased oral fluids. Antibiotics are
not indicated for viral infections, and decongestants and antihistamines are
not recommended in infants.
---
**7. The parents of an 8-year-old Down Syndrome boy arrive for his annual
well child visit. He wants to participate in sports, including the Special