An 8-year-old girl is brought to the physician by her mother. She has no remarkable past medical history. She’s had no recent illnesses.

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

A) Gaucher syndrome
B) Legg-Calve-Perthes disease
C) Pseudofracture
D) Sickle cell disease
E) Transient synovitis

An 8-month-old boy is evaluated in hospital for a violaceous region that appears to be growing on the trunk. It was present as a faint mark since birth, but appears to have rapidly grown over the past month. Physical examination shows a 10×14-cm violaceous region on the trunk. Laboratory studies show:

Hemoglobin                                                    15 g/dL
Leukocytes                                                       8,000/μL
Platelets                                                            90,000/μL
Prothrombin time                                       13 seconds
Partial thromboplastin time                 30 seconds
Bleeding time                                                 9 minutes

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

A) Cherry hemangioma
B) Kasabach-Merritt syndrome
C) Pyogenic granuloma
D) Stewart-Treves syndrome
E) Strawberry hemangioma

A 3-year-old boy is brought to the pediatrician by his mother for a wellness check. Physical examination shows a single palmar crease, slanted palpebral fissures, and epicanthal folds. Which of the following additional findings is most likely to be seen in this patient?

A) Bird’s beak sign
B) Coffee bean sign
C) Double bubble sign
D) Increased lymphoblasts
E) Target sign

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