Syndromes 2
Terms
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- 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
- VACTERRL?
- 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)