But for every textbook case, there were a hundred ambiguous ones. Patients who were tall, but not that tall. Patients with long fingers, but no family history. Patients who walked out of her clinic with a diagnosis of "maybe" and a return ticket for an echocardiogram six months later.
Dr. Marcus Tse at St. Jude's ran the calculator on a 41-year-old woman with chronic joint pain and a history of miscarriages. Her score was —well below the threshold. He sighed with relief and sent her to rheumatology. marfan calculator
Dr. Lena Sarkisian had spent fifteen years studying the genetic and structural quirks of connective tissue. She knew that Marfan syndrome was a master of disguise. It could present as a lanky, gifted basketball player with heart problems, or as a quiet child with curved spine and eyes that didn't focus quite right. But for every textbook case, there were a