Substance Abuse Disorder

Dec 31, 2018 by in PEDIATRICS Comments Off on Substance Abuse Disorder

Patient Story Print Section Listen A young mother and her four children are being seen in a free clinic within a homeless shelter for various health reasons (Figure 229-1). The…

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Phace Syndrome

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

Patient Story Print Section Listen A 2.5-year-old girl who was diagnosed with PHACE syndrome at 5 months of age is brought to her dermatologist for a routine follow-up visit. She…

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Incontinentia Pigmenti

Dec 31, 2018 by in PEDIATRICS Comments Off on Incontinentia Pigmenti

Patient Story Print Section Listen A 6-day-old girl is brought by her parents to the emergency department for a rash on her arms and chest. The parents noted that over…

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Osteogenesis Imperfecta

Dec 31, 2018 by in PEDIATRICS Comments Off on Osteogenesis Imperfecta

Patient Story Print Section Listen A newborn infant is being evaluated by the pediatrician in the hospital. On physical exam, the infant is noted to have blue sclerae and deformities…

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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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