PEDIATRICS

Marfan Syndrome

Dec 31, 2018 by in PEDIATRICS Comments Off on Marfan Syndrome

Patient Story Print Section Listen A 14-year-old girl is brought to her pediatrician for a routine health maintenance visit. The pediatrician notes that she is tall for her age, has…

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B and T Cell Immunodeficiencies—Severe Combined Immunodeficiency (SCID) and Other Well Defined Primary Immunodeficiencies

Dec 31, 2018 by in PEDIATRICS Comments Off on B and T Cell Immunodeficiencies—Severe Combined Immunodeficiency (SCID) and Other Well Defined Primary Immunodeficiencies

Patient Story Print Section Listen A 2.5-month-old-baby boy presented to his pediatrician because of a 10-day history of diarrhea, which began soon after his first series of immunizations, which included…

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Down Syndrome

Dec 31, 2018 by in PEDIATRICS Comments Off on Down Syndrome

Patient Story Print Section Listen A 2-day-old baby boy is brought to the emergency department for vomiting. The patient’s mother is a 25 year-old single parent who did not receive…

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Turner Syndrome

Dec 31, 2018 by in PEDIATRICS Comments Off on Turner Syndrome

Patient Story Print Section Listen A 6-year-old girl is brought to the pediatrician because of swelling in her lower legs that was noted by her mother over the past few…

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Ehlers–Danlos Syndromes

Dec 31, 2018 by in PEDIATRICS Comments Off on Ehlers–Danlos Syndromes

Patient Story Print Section Listen A 12-year-old boy presents to his pediatrician with pain in his knees while walking. On physical examination, he is noted to be short, has hyperextensibility…

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B Cell Immunodeficiencies

Dec 31, 2018 by in PEDIATRICS Comments Off on B Cell Immunodeficiencies

Patient Story Print Section Listen A 13-month-old boy is hospitalized with high fever, cough, and decreased oral intake. Diagnostic work up reveals pneumococcal pneumonia (Figure 218-1). He responds well to…

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Chronic Granulomatous Disease

Dec 31, 2018 by in PEDIATRICS Comments Off on Chronic Granulomatous Disease

Patient Story Print Section Listen A 4-year-old boy presents with a recent history of persistent pneumonia. A detailed past medical history reveals several recurrent infections including pneumonia and lymph node…

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Noonan Syndrome

Dec 31, 2018 by in PEDIATRICS Comments Off on Noonan Syndrome

Patient Story Print Section Listen A 3-year-old boy is brought to see his pediatrician for a health maintenance visit. During the exam, the pediatrician notes that the child’s face lacks…

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DiGeorge Syndrome

Dec 31, 2018 by in PEDIATRICS Comments Off on DiGeorge Syndrome

Patient Story Print Section Listen A newborn infant is noted to have micrognathia, a bulbous nasal tip, a crumpled ear helix (Figure 216-1), hooded eyes, a high arched palate, and…

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Primary Ciliary Dyskinesia

Dec 31, 2018 by in PEDIATRICS Comments Off on Primary Ciliary Dyskinesia

Patient Story Print Section Listen A 13-year-old boy presents for evaluation of a chronic productive cough and fever. Since birth, he has had persistent rhinitis, thick nasal drainage, and recurrent…

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