Brushfield spots observed on the eye examination of a newborn infant are associated with which condition?

• A. Cornelia de Lange syndrome
• B. Down syndrome
• C. Potter's sequence
• D. Beckwith-Wiedemann syndrome

Answer: (B)

Brushfield spots are small white or grayish specks on the periphery of the iris. They occur more commonly in newborns with Down syndrome due to developmental changes in the iris stroma. Their presence can be a helpful clue toward Down syndrome when seen alongside other signs, though they are not diagnostic on their own. The other listed conditions have distinct ocular or facial features that are not typically characterized by Brushfield spots (Cornelia de Lange with features like synophrys and limb anomalies; Potter sequence with renal and facial abnormalities; Beckwith-Wiedemann with macroglossia and omphalocele), so Brushfield spots best fit Down syndrome.