An infant with Marfanoid phenotype and congenital contractures associated with ocular and cardiovascular anomalies, cerebral white matter hypoplasia and spinal axonopathy.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001369:Axons / Q000473:pathology; D001921:Brain / Q000002:abnormalities; D003286:Contracture / Q000151:congenital*; D004551:Elbow Joint; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007719:Knee Joint; D008382:Marfan Syndrome / Q000235:genetics*; D008945:Mitral Valve Prolapse / Q000151:congenital; D010641:Phenotype; D013118:Spinal Cord Diseases / Q000235:genetics; D014263:Tricuspid Valve Prolapse / Q000151:congenital