A 3-year-old boy is brought to the pediatrician for a follow-up appointment. He has a history of Staph and Strep infections. He appears notably fairer skinned than his 6-year-old sister.

Which of the following is the most likely explanation for this patient’s findings?

A) Adenosine deaminase deficiency
B) Glucocerebrosidase deficiency
C) Impaired phagolysosomal fusion
D) Leukocyte adhesion disruption
E) Tyrosine kinase deficiency

A 4-year-old boy is brought to the physician for a follow-up examination. He has a history of bacterial sepsis one year ago and 3 pneumonias since roughly 7 months of age. Which of the following is the most likely cause of the patient’s pathology?

A) Adenosine deaminase deficiency
B) Deficiency of mucosal immunoglobulin
C) Impaired cell-mediated immunity
D) Impaired phagolysosomal fusion
E) Tyrosine kinase deficiency

A 6-year-old boy is brought to physician by his parents for recurrent infections since early infancy. He has had multiple episodes of otitis media and pneumonia requiring antibiotics, and his parents report frequent episodes of diarrhea. Physical examination shows diffuse eczematous rash involving the flexural surfaces and trunk with areas of excoriation. The infant bruises easily, and his parents note frequent nosebleeds and prolonged bleeding after heel sticks. Which of the following is the most likely explanation for this patient’s presentation?

A) Chediak-Higashi syndrome
B) Hyper IgM syndrome
C) IgA deficiency
D) Job syndrome
E) Wiskott-Aldrich syndrome

A 6-year-old boy is brought to the pediatric neurologist for a follow-up appointment. He has a several-month history of difficulty with upward gaze. A sagittal MRI is shown. A disruption of which of the following is most likely to be seen in this patient?

A) Circadian rhythm
B) Finger-to-nose test
C) Globus pallidus internus stimulation
D) Recognizing familiar faces
E) Romberg test

A 1-week old boy is evaluated in hospital. He was born at 39 weeks’ gestation. APGAR scores were 8 and 9 at one and five minutes, respectively. His birth weight was 3500g.

Which of the following is the most likely explanation for this patient’s findings?

A) Failure of rotation of proximal bowel
B) Germline mosaicism
C) Hypertrophic musculature
D) Robertsonian translocation
E) Trisomy 18

A 12-hour boy born 39 weeks’ gestation is evaluated for a palpable suprapubic mass. He has not yet voided but has passed meconium. Pregnancy was complicated by mild oligohydramnios. Which of the following is most likely to be seen in this patient?

A) Abnormality of the urogenital sinus
B) Abnormal retrograde cystourethrogram
C) Opsoclonus-myoclonus syndrome
D) Pyelonephritis
E) Vesicoureteral reflux

A 7-year-old boy is brought to emergency 30 minutes following excruciating left scrotal pain. Physical examination shows a high-riding, horizontally oriented left testis. Which of the following is most likely to be seen in this patient?

A) Blue dot sign
B) Genitofemoral nerve impingement
C) Patent processus vaginalis
D) Positive cremasteric reflex
E) Positive Prehn sign

A 6-year-old boy is brought to the physician for a 2-day history of puffiness beneath his eyes and fullness at his ankles. He has no past medical history. His vitals are normal. Physical examination shows periorbital and pedal edema. There is no abdominal fluid wave. Urinalysis shows 3+ protein and 0-2 RBCs/hpf. Which of the following conditions is most likely to produce similar urinalysis findings?

A) Diabetic glomerulosclerosis
B) Diffuse proliferative glomerulonephritis
C) IgA nephropathy
D) Membranoproliferative glomerulonephritis
E) Proliferative glomerulonephritis

A 4-year-old boy is brought to the physician for a follow-up appointment. He has a history of recurrent bacterial pneumonias since the age of 6 months. He is at the 5th percentile for weight and height. The mother reports that her brother has a long history of not being able to conceive with his wife, where he produced a sample that showed “no sperm.” An x-ray of the child is shown.

Which of the following is the most likely explanation for these findings?

A) Decreased 7-dehydrocholesterol conversion into cholecalciferol
B) Decreased serum immunoglobulin concentrations
C) Decreased ENaC activity
D) Dynein arm defect
E) Exocrine pancreatic insufficiency

A 2-year-old girl is brought to the physician by her father after she suddenly stopped using her right arm. He reports that while walking together earlier that day, he lifted her by the hand to help her over a curb, after which she cried briefly and has refused to move the arm since. On examination, the child holds her right arm close to her body with the elbow slightly flexed and the forearm pronated. There is no swelling, bruising, or deformity, but she resists any attempted movement at the elbow. Which of the following is the most likely explanation for these findings?

A) Distal shaft fracture
B) Greenstick fracture
C) Medial epicondylar fracture
D) Subluxation of radial head
E) Supracondylar fracture of humerus