A 3-Year-Old Boy Is Brought to the Physician for Evaluation

A 3-year-old boy is brought to the physician for evaluation of delayed milestones.  Over the past year, he has been receiving physical and speech therapies for delays in gross motor skills and speech.  He is currently able to walk up and down stairs and run well.  He has a vocabulary of approximately 25 words and does not make 2-word sentences.  His parents report that he has poor eye contact and does not show interest in engaging with other children.  Review of systems is otherwise negative.  His vaccinations are up to date.  He has an uncle with Down syndrome and a cousin with autism.  Head circumference, length, and weight are each at the 5th percentile.  Examination of the face shows small palpebral fissures, absent philtrum, and a thin upper lip border.  What is the underlying cause of his problems?

A) Adverse effects from vaccination during infancy
B) Fragile X mental retardation 1 gene mutation
C) In utero exposure to alcohol
D) In utero exposure to cytomegalovirus
E) In utero exposure to phenytoin
F) In utero exposure to rubella
G) Nondisjunction resulting in an extra copy of chromosome 21

Correct Answer:

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