[Marfan disease presenting in neonates with rapid cardio-vascular failure. Apropos of 2 cases].
We report two exceedingly unusual and severe cases of Marfan syndrome with neonatal manifestations. Clinical features were caricatural. The skin was of the cutis laxa type. Both infants died shortly after birth as a result of severe cardiovascular lesions. Histologic examination of the aortic media confirmed the diagnosis. Because this genetic connective tissue dysplasia is inherited on an autosomal dominant basis with strong penetrance, and because in both instances the two parents had a negative family history, a dominant mutation seems likely in our cases and prompted us to be optimistic when giving genetic counseling. We point out the characteristic features of these exceptional early forms and describe the results of a detailed histologic examination of the skin that completes data from the literature.
Mathieu
M
M
Labeille
B
B
Sevestre
H
H
Krim
G
G
Olewnizak
G
G
Maingourd
Y
Y
Piussan
C
C
D001011:Aorta / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008382:Marfan Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D010641:Phenotype
Maladie de Marfan à expression néonatale avec défaillance cardio-vasculaire rapide. A propos de deux observations.