THE MARFAN-SYNDROME IN CHILDHOOD - FEATURES, NATURAL-HISTORY AND DIFFERENTIAL-DIAGNOSIS

The Marfan syndrome is defined by a combination of features of defecti ve microfibrillar organization and function in multiple tissues and or gans. Most of the features, including the cardinal ones of dis-proport ionate tall stature, ectopia lentis, mitral valve prolapse, aortic roo t dilatation and aortic dissection, are age dependent, which may make diagnosis in a child difficult. Recently revised diagnostic criteria s trengthen the requirements for an affected relative and specify how mo lecular data can be used in both a positive and negative sense. The go al is to identify from among many conditions, both hereditary and acqu ired, that share features with Marfan syndrome those patients who warr ant the label of Marfan syndrome and structured, preventive management .