Marfan Syndrome presenting in neonates is uncommon.  It is clinically severe and associated with poor survival.

Gene affected: FBN1 (fibrillin 1), usually between exons 23 and 32

Chromosome: 15q21.1

Inheritance: autosomal dominant


Key findings:

(1) mitral valve insufficiency and/or prolapse

(2) tricuspid valve insufficiency

(3) infantile pulmonary emphysema

(4) dilation of the great vessels and aortic root dilatation

(5) arachnodactyly

(6) pneumothorax

(7) lens dislocation

(8) diaphragmatic hernia

(9) variable facial or cranial dysmorphism



(1) cardiomegaly with congestive heart failure

(2) respiratory failure


The mortality rate is high with death before 2 years of age.

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