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11 Cards in this Set

  • Front
  • Back
What is CHARGE?
An Association of Coloboma, Heart Defects, Atresia Choanae, Retardation of Postnatal Growth, Genital anomalies, Ear malformation
How is CHARGE association diagnosed?
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.
What is VATER?
An association of V=vertebral anomalies, A=anal atresia, TE=tracheoesophageal fistula, and R=renal anomalies
V=vertebral anomalies, A=anal atresia, TE=tracheoesophageal fistula, and R=renal anomalies; C=cardiac defects and RL=radial limb anomalies
Fetal Alcohol Syndrome
prenatal-onset growth deficiency, short palpebral fissures, midface hypoplasia, smooth philtrum, and thin upper lip among other things; abnormal growth postnatally and neurocognitive deficits
Fetal hydantoin syndrome (dilantin)
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.
Fetal valproate syndrome
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.
What organ anomalies are common in Turner's syndrome?
cardiac (45%) and renal (40%)
What cardiac defects are associated with Turner syndrome?
coarctation of the aorta or bicuspid aortic valve
what renal malformation is associated with Turner syndrome?
horseshoe kidney
any eye abnormality associated with Turner syndrome?
red-green color blindness (equal to that in normal male population)