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Case Reports
. 1985 Jan;143(3):228-31.
doi: 10.1007/BF00442148.

An infant with Marfanoid phenotype and congenital contractures associated with ocular and cardiovascular anomalies, cerebral white matter hypoplasia and spinal axonopathy

P Tamminga, F G Jennekens, P G Barth, P Fleury, H van den Berg, J W Oorthuys
Case Reports

An infant with Marfanoid phenotype and congenital contractures associated with ocular and cardiovascular anomalies, cerebral white matter hypoplasia and spinal axonopathy

P Tamminga et al. Eur J Pediatr. 1985 Jan.

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.

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References

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