A 7-day-old male infant presents to the pediatrician for weight loss. There is no history of excessive crying, irritability, lethargy, or feeding difficulty. The parents deny any history of fast breathing, bluish discoloration of lips/nails, fever, vomiting, diarrhea, or seizures. He was born at full term by vaginal delivery without any perinatal complications and his birth weight was 3.6 kg (8 lb). Since birth he has been exclusively breastfed and passes urine six to eight times a day. His physical examination, including vital signs, is completely normal. His weight is 3.3 kg (7.3 lb); length and head circumference are normal for his age and sex. Which of the following is the next best step in the management of the infant?
AReassurance of parents
BEvaluation of the mother for malnutrition
CAdmission of the infant in the NICU to treat with empiric intravenous antibiotics
DEmphasize the need to clothe the infant warmly to prevent hypothermia
ESupplementation of breastfeeding with an appropriate infant formula
A two-year-old female presents to the pediatrician with her mother for a routine well-child visit. Her mother is concerned that the patient is a picky eater and refuses to eat vegetables. She drinks milk with meals and has juice sparingly. She goes to sleep easily at night and usually sleeps for 11-12 hours. The patient has trouble falling asleep for naps but does nap for 1-2 hours a few times per week. She is doing well in daycare and enjoys parallel play with the other children. Her mother reports that she can walk down stairs with both feet on each step. She has a vocabulary of 10-25 words that she uses in the form of one-word commands. She is in the 42nd percentile for height and 48th percentile for weight, which is consistent with her growth curves. On physical exam, she appears well nourished. She can copy a line and throw a ball. She can follow the command to “give me the ball and then close the door.” This child is meeting her developmental milestones in all but which of the following categories?
ASocial and receptive language skills
BFine motor skills
CThis child is developmentally normal
DGross motor skills
EExpressive language skills
A 7-year-old girl presents to her primary care physician for a routine check-up. The physician allows the medical student to perform a physical examination. The medical student notes hearing impairment as well as the findings show in Figures A and B. Radiographs show indications of multiple old fractures of the humerus that have healed. After questioning the girl’s parents, the medical student learns that in addition, the patient is extremely picky with her food and eats a diet consisting mainly of cereal and pasta. What is the most likely etiology of the patient’s disease?
ADietary deficiency of ascorbic acid
BDefect in type I collagen
CDefective mineralization of cartilage
DDecreased bone mineral density
ENon-accidental trauma
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