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Medical AI Inquiry: You were designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.
user
A 9-year-old boy is brought to the physician because of short stature. He has always had short stature around the 35th percentile on the growth curve. Over the past year, he has dropped further on the curve, despite maintaining the same diet. He has a history of low birth weight. The vital signs include: respiration rate 18/min, pulse 85/min, and blood pressure 110/65 mm Hg. His conjunctiva and nail beds are pale. Several hyperpigmented and hypopigmented patches are seen on the back. Chest inspection reveals pectus carinatum and prominent knobs of bone at most costochondral junctions. The thumbs are short, and he has bow legs. There are also petechiae on the lower limbs. The remainder of the physical exam shows no abnormalities. The laboratory results are as follows:
Hemoglobin 8.2 g/dL
Mean corpuscular volume 105 μm3
Platelet count 35,000/mm3
Serum
Na+ 131 mEq/L
K+ 2.8 mEq/L
Cl- 105 mEq/L
Phosphorus (inorganic) 2.5 mg/dL (3.0–4.5 mg/dL)
Arterial blood gas analysis on room air:
pH 7.30
PCO2+ 33 mm Hg
HCO3− 17 mEq/L
Urine
pH 5.0
Glucose 2+
Ketones Negative
Which of the following is the most likely diagnosis?
assistant
Fanconi anemia