A Toddler's Unexpected Delay

A toddler's developmental speed, distorted speech and heart defect help solve a genetic puzzle.

RELATED TAGS: GENES & HEALTH
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“Hi, Carlos. What’s that you’re playing with?” The 2½-year-old boy with curly dark-brown hair was sitting in my exam room, holding a Spider-Man figure in his small hands. He looked up at me with a shy smile, but didn’t say anything.  “He doesn’t talk much,” said his mother. “And when he does, it’s really hard to understand him.” “Yes, Dr. Connolly mentioned that when he referred Carlos to me,” I replied. &l...
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