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11 Cards in this Set
- Front
- Back
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What is CHARGE?
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An Association of Coloboma, Heart Defects, Atresia Choanae, Retardation of Postnatal Growth, Genital anomalies, Ear malformation
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How is CHARGE association diagnosed?
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Must have at least four of the features; at least one of those must be coloboma, choanal atresia/stenosis, or malformation of the inner ear.
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What is VATER?
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An association of V=vertebral anomalies, A=anal atresia, TE=tracheoesophageal fistula, and R=renal anomalies
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VACTERRL?
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V=vertebral anomalies, A=anal atresia, TE=tracheoesophageal fistula, and R=renal anomalies; C=cardiac defects and RL=radial limb anomalies
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Fetal Alcohol Syndrome
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prenatal-onset growth deficiency, short palpebral fissures, midface hypoplasia, smooth philtrum, and thin upper lip among other things; abnormal growth postnatally and neurocognitive deficits
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Fetal hydantoin syndrome (dilantin)
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wide anterior fontanelle, arched eyebrows, midface hypoplasia, accentuated cupid's bow of the upper lip, and hypoplastic distal phalanges and nails. There also may be cognitive dysfunction.
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Fetal valproate syndrome
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Affected infants have a 40-fold increased risk for neural tube defects. They also may have cleft lip, and there may be a dysmorphic facies that is similar to that seen with FAS.
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What organ anomalies are common in Turner's syndrome?
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cardiac (45%) and renal (40%)
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What cardiac defects are associated with Turner syndrome?
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coarctation of the aorta or bicuspid aortic valve
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what renal malformation is associated with Turner syndrome?
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horseshoe kidney
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any eye abnormality associated with Turner syndrome?
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red-green color blindness (equal to that in normal male population)
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