Trisomy 18 (Edwards syndrome)
Discussion:
This is a baby with numerous morphologic abnormalities, all diagnosed at birth. Radiologically evident on this radiograph are:
- TOF-OA
- abdominal wall defect (confirmed omphalocele)
- abnormal looking, thin bones
Although no specific diagnosis can be made on this baby, overall picture is of a syndromic baby.
Other findings were a perimembranous VSD on echo (note again that elevated cardiac apex), cleft lip and palate and an imperforate anus.
FISH analysis revealed Trisomy 18 (Edwards syndrome).
Following genetic consultation, the baby was palliated.
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