A child with a small head, minor anomalies of the face including a thin upper lip, growth delay, and developmental disability can have all of the following, except:
Correct Answer: A polygenic syndrome
Description: d. A polygenic syndrome(Ref: Nelson's 20/e p 618-619)The given child has microcephaly, thin upper lip & growth & developmental delay. These features can be seen in:a. A chromosomal syndrome like Tetrasomy 12p (Pallister-Killian syndrome)b. A teratogenic syndrome like fetal alcohol syndromec. Amendelian syndrome like Rubinstein-Taybi syndromeHence, a polygenic syndrome is least likely in the given scenarioIn a polygenic disease, multiple genes contribute to the disease like hypertension & diabetes
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Pediatrics
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