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30 Cards in this Set
- Front
- Back
1. Screen for Down syndrome and when is it performed?
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a. Triple screen
b. 15-20 wks of pregnancy c. Further eval with amniocentesis can then be offered. |
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2. S/S of DS in newborn?
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a. upslanting palpebral fissures
b. Brushfield spots c. Flat facial profile d. Small and round ears e. Widespread nipples f. Pelvic dysplasia g. Joint hyperflexibility h. Epicanthal folds i. Redundant nuchal skin j. 5th finger clinodactyly k. Brachydactyly l. Single transverse palmar crease |
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3. Other features of DS?
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a. Brachycephaly (disproportionate shortness of head)
b. Epicanthal folds c. Brachydactyly d. Wide spacing between first and second toes e. Short stature. |
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4. Tone and reflexes in DS?
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a. Decreased tone
b. Poor Moro reflex |
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5. Advanced maternal age correlation w/DS?
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a. Incidence of DS increases each year beyond age 35.
b. At 35, the incidence is 1/378 liveborn infants. c. Increase to 1/106 by age 40 and 1/1 by age 49. |
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6. Brachydactyly?
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a. Excessive shortening of hand and foot tubular bones resulting in a boxlike appearance.
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7. Clinodactyly?
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a. Incurving of one of the digits (in DS the 5th digit curves medially due to midphalanx dysplasia).
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8. Dysmorphic child?
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a. A child w/problems of generalized growth or body structure formation.
b. These children have a “syndrome” (a constellation of features from a common cause). c. I.e. VATER 1. Vertebral problems 2. Anal anomalies 3. Trachea problems 4. Oesophageal abnormalities 5. Radius or Renal anomalies. d. Or a “sequence” |
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9. Sequence?
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a. A single defect that leads to subsequent abnormalities
b. i.e. Potter disease’s lack of normal infant kidney function |
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10. Symptoms of Potter’s disease?
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a. Reduced urine output
b. Oligohydramnios c. Constraint deformities |
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11. Association?
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a. 2 or more features of unknown cause occurring together more commonly than expected.
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12. What 2 potentially life-threatening conditions must be addressed in newborns w/suspected DS (at least 2)?
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50% have cardiac defects-
1. most commonly endocardial cushion defect (60%) 2. VSD (32%) 3. Tet (6%) b. 12% have intestinal (usually duodenal) atresia. Some present w/a hx of polyhydramnios. |
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13. Note: If they have cardiac defects, a cardio consult and echo is usually indicated.
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13. Note: If they have cardiac defects, a cardio consult and echo is usually indicated.
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14. What do all DS infants have?
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a. Hypotonia and sometimes slower feeding.
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15. What will an Upper GI study likely reveal in a DS pt who has persistent vomiting after feeds (especially if bilious)?
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a. “Double-bubble” pattern of duodenal atresia.
b. Surgical intervention is warranted |
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16. What does confirmation of DS require?
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a. Chromosomal analysis.
b. A Complete extra 21 (nondisjunction, ie. Failure to segregate during meiosis) occurs in almost 95% of cases. |
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a. Chromosomal analysis.
b. A Complete extra 21 (nondisjunction, ie. Failure to segregate during meiosis) occurs in almost 95% of cases. |
a. 2% are caused by translocations (breakage and removal of a large DNA segment from 1 chromosome and attachment to a different one).
b. 3% are mosaics (more than 1 cell type: usually described as an abnormal cell percentage). |
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18. What are parents of DS pts evaluated for?
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a. Chromosomal aberrations.
b. The recurrence risk can approach 100% in some cases. |
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19. Other newborn conditions associated w/DS?
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a. Hearing loss
b. Strabismus c. Cataracts d. Nystagmus e. Congenital hypothyroidism. |
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20. When is hearing evaluated in baby?
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a. By age 3 months.
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21. When does an ophthalmologist evaluate the eyes of newborn?
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a. By age 6 months.
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22. When is thyroid function assessed?
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a. As part of the routine newborn screening program.
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23. Longer-term DS consequences?
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a. Higher leukemia risk
b. Acquired hypothyroidism c. Atlantoaxial (cervical spine) instability d. Premature aging w/an increased risk of Alzheimer disease. |
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24. Note: all DS children are mentally retarded, but the IQ vary widely (mosaics can exhibit near-normal intelligence.
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24. Note: all DS children are mentally retarded, but the IQ vary widely (mosaics can exhibit near-normal intelligence.
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25. Next step in evaluation of suspected Down Syndrome case in infant?
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a. Infant chromosomal evaluation to confirm diagnosis
b. Evaluation for other features of the syndrome, counseling, and family support. |
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26. Symptoms of Trisomy 18 (Edwards)?
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a. Weak cry
b. Single umbilical artery c. Micrognathia with small mouth and high arched palate d. Clenched hand w/overlapping of index finger over the third finger e. Simian crease f. Rocker-bottom feet g. Small pelvis h. Short sternum |
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27. Features of Trisomy 13 (patau)?
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a. Microcephaly and sloping of the forehead
b. Deafness c. Scalp Cutis aplasia d. Microphthalmia e. Coloboma f. Cardiac defect (esp VSD) g. Omphalocele h. Single umbilical artery |
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28. What drugs do babies w/Patau’s have Hypersensitivity to?
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a. Agents containing atropine and pilocarpine.
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29. Most common neonatal Down syndrome features?
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a. Hypotonia w/poor moro reflex
b. Flat faces c. Slanted palpebral fissures d. Laxity of joints e. Excessive skin on back of neck. |
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30. Complete
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30. Complete
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