Marfan, neonatal syndrome

[MIM 154 700]

(Infantile Marfan syndrome, Neonatal Marfan syndrome)

Very rare. In general, cauised by a de novo mutation of the FBN1 gene (15q21.1) coding for fibrilline-1. The phenotype is very different from the classic Marfan disease which is transmitted on an autosomal dominant mode.


Clinical signs:

-        facies of senile appearance with dolichocephaly and micro (retro) gnathia, wrinkled ears

-        flexion contractures of the joints

-        loose and redundant skin

-        arachnodactyly

-        narrow chest, with congenital emphysema

-        early scoliosis

-          megalocornea with sometimes dislocation of the lens and iridodonesis

-         cardiac anomalies: mitral and/or aortic regurgitation, aortic dilation


The prognosis is bad with death following heart failure in 85 % of cases.


Anesthetic implications:

echocardiography; risk of difficult mask ventilation and/or intubation


References : 

-          Morse RP, Rockenmaster S, Pyeritz RE, Sanders SP, Bieber FR, Lin A, McLeod P, Hall B, Graham JM.
Diagnosis and management of infantile Marfan syndrome.
Pediatrics 1990; 86: 888-95

-        Buntinx IM, Willems PJ, Spitaels SE, Van Reemps PJ et al.
Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.
J Med Genet 1991 ; 28 :267-73.

-        Ramaswamy P, Lytrivi ID, Nguyen K, Gelb BD.
Neonatal Marfan syndrome.
Pediatr Cardiol 2006; 27: 763-5.

-        Amado M, Calado MA, Ferreira R, Lourenço T.
Neonatal Marfan syndrome : a successful early multidisciplinary approach.
BMC Case Rep 2014; doi 10.1136/bcr-2013-202438

-        Solé-Ribalta A, Rodriguez-Fanjul X, Carretero-Bellon JM, Martorell-Sampol L et al.
Neonatal Marfan syndrome : a rare, severe, and life-threatening genetic disease.
J Pediatr 2019; 211: 221-3

       

Updated: August  2019