Short Stature in Pediatrics — 6yo Child | General Pediatrics | SMLE Q#16578

SMLE Question #16578

Pediatrics General Pediatrics

Objective: OBJ-377

Last updated: February 2026
A 6-year-old boy is evaluated for short stature and distinctive facial features. He sat at 10 months and walked at 20 months. His height is below the 5th percentile. Exam shows a short, webbed neck, low-set posteriorly rotated ears, and widely spaced nipples. Cardiac examination reveals a systolic murmur loudest at the left upper sternal border. Testes are descended. What is the most likely diagnosis?

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