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Paediatric Pulmonology and Allergology
2005 April, Vol. VIII, No. 1 (2786-2792)
DIAGNOSTIC CRITERIA OF THE MARFAN SYNDROME AND THE OTHER FIBRILLINOPATHIES
Birute Skerliene
Vilnius University Clinic of Children’s Diseases, Vilnius, Lithuania
The Marfan Syndrome (MFS) is an autosomal dominant heritable disorder of connective tissue with predominant involvement of the ocular, skeletal and cardiovascular systems. The MFS is caused by the mutations in the fibrillin gene (FBN1) on chromosome 15. The diagnosis of the MFS is codified on the basis of clinical criteria, criteria in Berlin nosology, which state that in the absence of an unequivocally affected first-degree relative, one should require involvement of the skeleton and at least two other systems with a minimum of one major manifestation (ectopia lentis; aortic dilatation/dissecation, or dural ectasia); in the presence of unequivocally affected first-degree relative, one requires only that two organ systems be involved. Most notable propositions of Revised Diagnostic Criteria for the MFS, Gent, 1996, were: more stringent requirements for diagnosis of the MFS in relatives of an unequivocally affected individual; skeletal involvement as a major criterion if at least 4 of 8 typical skeletal manifestations are present; potential contribution of molecular analysis to the diagnosis of the MFS; and delineation of initial criteria for diagnosis of other heritable conditions with partially overlapping phenotypes.