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23 Cards in this Set
- Front
- Back
A mother brings her 20-day-old male infant to your clinic for the child’s first visit. You learn that the infant was born at home to a 28-year-old G1P1, and the infant has not yet received newborn screening. During your history, you learn that the infant has been vomiting 2 to 3 times per day, and the mother reports that her son seems fussier than her friends’ infants. On exam, you note an eczematous rash and a musty odor to the infant’s skin and urine. Which enzyme deficiency would you expect the infant to display? |
Phenylalanine hydroxylase |
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A 19-year-old female in her 38th week of pregnancy goes into active labor. Shortly after birth her baby is noted to have a high-pitched cry, tremulousness, hypertonicity, and feeding difficulties. The baby is otherwise developmentally normal and the remainder of the physical exam also is normal. What is the drug the baby's mother likely used during her pregnancy? |
Heroin |
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A 19-year-old G1P0 presents in labor to the ED at 38 gestational weeks. On interview it is discovered that the patient had irregular prenatal care, drank a couple of beers every weekend, and smoked 4 cigarettes a day. She delivers a baby boy who is small for gestational age. On exam, it is noted the baby has microcephaly, a smooth philtrum, and a thin upper lip. What do you suspect caused these features in the baby? |
Alcohol exposure |
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A mother brings her 20-day-old male infant to your clinic for the child’s first visit. You learn that the infant was born at home to a 28-year-old G1P1, and the infant has not yet received newborn screening. During your history, you learn that the infant has been vomiting 2 to 3 times per day, and the mother reports that her son seems fussier than her friends’ infants. On exam, you note an eczematous rash and a musty odor to the infant’s skin and urine. Which enzyme deficiency would you expect the infant to display? |
Phenylalanine hydroxylase |
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A 33-year-old G1P0 female with a history of medically controlled seizures gives birth vaginally to a boy with IUGR at 38 weeks' gestation. The newborn is noted to have dysmorphic cranial features and his head circumference is 28.5 cm (< 5th percentile). What is another associated abnormality you might expect to see in this newborn |
Cardiac defects |
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PKU |
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G6PD deficiency |
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Heroin Baby |
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Alcohol baby |
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Cocaine baby |
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Tobacco baby |
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Tobacco baby |
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Alcohol baby |
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Congenital rubella baby |
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HIV baby |
Need lab test to rule out (not lead to recognizable symptoms at birth) |
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Congenital CMV baby |
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PKU baby |
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G6PD baby |
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Anticonvulsant use baby |
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What might hepatosplenomegaly in newborns be seen in? |
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What might lead to absent red reflex in newborn? |
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Chorioretinitis in newborn due to...? |
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Tremors in newborn cause? |
Maternal substance use |