Hereditary connective tissue disorder
Caused by autosomal-dominant mutation in fibrillin gene (FBN1)
75% of cases are autosomal dominant with different features among family members
25% mutations occur spontaneously, though may be associated with older paternal age
Caused by autosomal-dominant mutation in fibrillin gene (FBN1)
75% of cases are autosomal dominant with different features among family members
25% mutations occur spontaneously, though may be associated with older paternal age
Marfan syndrome
Ehlers-Danlos syndrome
Lown-Ganong-Levine syndrome
Kounis syndrome
DiGeorge syndrome
Down syndrome
Brash syndrome
Schatzki ring