Edwards syndrome (Trisomy 18)

 

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An infant with trisomy 18 (Edwards syndrome), exhibiting characteristic facial features, short sternum, overlapping fingers with clenched fists, and a left-sided clubfoot.

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Here is a lateral cleft in a child with multiple congenital anomalies. In this case, the constellation of anomalies suggested a possible chromosomal anomaly, and a karyotype revealed 47, XY, +18 (trisomy 18).

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This karyotype demonstrates trisomy 18 (47, XY, +18) also known as Edward's syndrome. It is uncommon for fetuses with this condition to survive, so the incidence is only 1 in 8000 live births. It is rare for babies to survive for very long if liveborn because of the multitude of anomalies that are usually present.

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The external features of this neonate with trisomy 18 are subtle: a small face with micrognathia and a small chest. The ears are low set.

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The characteristic overlapping fingers (clenched fist) of a fetus with trisomy 18 is shown here.

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This appearance is highly suggestive of trisomy 18. Note that digits 2 and 5 overlap 3 and 4.

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Two girls with Trisomy 18


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