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Eur J Pediatr ; 143(3): 228-31, 1985 Jan.
Article in English | MEDLINE | ID: mdl-3921377

ABSTRACT

An infant is presented with a Marfanoid phenotype and congenital contractures. In addition to this she showed severe neurological and ocular abnormalities. Cardiac insufficiency due to mitral and tricuspidal valve prolapse caused her death at the age of 6 months. Postmortem examination showed axonal pathology of the anterior horns and roots of the spinal cord, and white matter hypoplasia of the brain.


Subject(s)
Abnormalities, Multiple/genetics , Contracture/congenital , Marfan Syndrome/genetics , Axons/pathology , Brain/abnormalities , Elbow Joint , Eye Abnormalities , Female , Humans , Infant , Infant, Newborn , Knee Joint , Mitral Valve Prolapse/congenital , Phenotype , Spinal Cord Diseases/genetics , Tricuspid Valve Prolapse/congenital
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