In Fragile X syndrome, prepubescent males are commonly recognized by which features?

In Fragile X syndrome, prepubescent males are commonly recognized by which features?

• A. Short stature
• B. Hyperactivity only
• C. Large ears, elongated face, macrocephaly, frontal bossing
• D. Microcephaly

Answer: (C)

Fragile X syndrome has a recognizable facial pattern in prepubertal boys: an elongated face, large ears, and a relatively large head (macrocephaly). This combination creates a distinctive appearance that clinicians notice alongside developmental concerns, making it the best clue for recognizing Fragile X in children before puberty. Hyperactivity is common but not exclusive, and not as identifying as the facial gestalt. Short stature and microcephaly aren’t typical features, while macroorchidism appears after puberty, not in prepuberty. So the description of large ears, an elongated face, macrocephaly, and frontal bossing best fits how the condition commonly presents in prepubescent males.

Fragile X syndrome has a recognizable facial pattern in prepubertal boys: an elongated face, large ears, and a relatively large head (macrocephaly). This combination creates a distinctive appearance that clinicians notice alongside developmental concerns, making it the best clue for recognizing Fragile X in children before puberty. Hyperactivity is common but not exclusive, and not as identifying as the facial gestalt. Short stature and microcephaly aren’t typical features, while macroorchidism appears after puberty, not in prepuberty. So the description of large ears, an elongated face, macrocephaly, and frontal bossing best fits how the condition commonly presents in prepubescent males.