Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.

doi:10.1136/jmg.28.4.267

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Article

Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.

Journal of medical genetics - 1 Apr 1991

Buntinx I M, Willems P J, Spitaels S E, Van Reempst P J, De Paepe A M, Dumon J E

Abstract excerpt

We describe a male neonate with severe arachnodactyly, hypermobility of the fingers, flexion contractures of elbows, wrists, hips, and knees, micrognathia, crumpled ears, rockerbottom feet, loose redundant skin, and ocular abnormalities. Severe cardiac valve insufficiency and aortic dilatation re...

Topics

Contracture
Humans
Infant, Newborn
Male
Marfan Syndrome
Mitral Valve Insufficiency
Mutation
Physical Examination
Tricuspid Valve Insufficiency

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