Marfan Syndrome

A 20 May 2006 CNN video describes how a mother took her son around to pediatricians in New York in the early 1990s, convinced because of his long slender fingers that something was wrong .  None of the doctors figured out that he had Marfan syndrome and the problem was dismissed as "maternal anxiety".  As the boy grew it was clear he was unusually tall. 

The diagnosis was made at 5 years old by the mother after she'd purchased a computer for her son's birthday.  A software program called "The Family Doctor" was bundled with the computer and she used the program to make the diagnosis.

The diagnosis of someone with arachnodactyly and tall stature should not be difficult.  Even using Google Health it comes up as #3 in the listing (accessed on 20 May 2006), and even in SimulConsult Diagnostic Decision Support it is #1 by a wide margin using the two findings.  Adding other findings such as dolichostenomelia makes the differential diagnosis even more crisp.

Registration is required to click into the software because access to the software is restricted for legal reasons to medical professionals and students.

If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.