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A 7-year-old boy with Rubinstein-Taybi syndrome (RTS) was referred with 20-day history of coughing fits.
On arrival he looked well. He had characteristic facial features (arched eyebrows, long eyelashes, oblique eye rims down, hooked nose, prominent columella down, arched palate and micrognathia), psychomotor delay and ligamentous and joint laxity compatible with the underlying condition. Chest auscultatory finding was negative, no signs of dyspnoea or swallowing problems were detected. …
Contributors All the authors have participated in the concept and design and have approved the manuscript.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.