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Pediatrics Genetic and genetic disorders a6baf75d

The following is the finding noted in a 12-month-old baby who is growing well and developing normally since bih. Which of the following is a true statement regarding this finding?

A
Down syndrome is the diagnosis
B
Maternal history of phenytoin intake during pregnancy should be suspected
C
Simple reassurance should be provided
D
Chromosomal analysis should be done to rule out other chromosomal abnormalities
High-Yield Explanation
The picture depicts a Simian crease-single transverse palmar crease. It is a normal finding in about 3% of population. And in child with Simian crease and normal growth and development, simple reassurance should be provided. Other options: A Simian crease is one of the findings of Down syndrome however presence of only this finding should not lead to a diagnosis of Down syndrome. Maternal history of Phenytoin intake during pregnancy doesnot lead to this finding. However,maternal alcohol intake can be associated with this condition. Chromosomal analysis in an otherwise well child is not indicated. Ref: Nelson textbook of pediatrics 21st edition Pgno: 995

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