Marfan syndrome, an underdiagnosed life-threatening disease
Marfan syndrome was first described in the 1890s by the French professor of pediatrics Antoine Bernard-Jean Marfan when he presented the case of a five-year-old girl to the Société Médicale des Hôpitaux de Paris. He reported her disproportionately long limbs, long slender fingers and other skeletal abnormalities.
We now know Marfan syndrome is an autosomal dominant inherited connective tissue disorder with variable penetrance. Only one copy of the defective gene has to be inherited in an autosomal chromosome to acquire the disease. The clinical manifestations vary considerably from person to person making it difficult to diagnose.
