This long-awaited update from the AAP Committee on Genetics is designed to assist pediatricians in recognizing the features of the syndrome and caring for patients. It replaces the 1996 guidance and is published in the October issue of Pediatrics.
USE OF A SYSTEMIC SCORE
Marfan syndrome is a heritable, multisystem disorder of connective tissue with extensive clinical variability. It is a relatively common condition, with approximately one in 5,000 people affected. About 25% of cases are sporadic, but some familial cases go unrecognized. Often, it is the pediatrician who is central to the diagnosis and ultimately the management of this condition. The pediatrician often recognizes features concerning for Marfan and refers for further evaluation, which may be cardiac or genetic.
Read More: AAP News