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

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

Eur J Pediatr. 1985 Jan;143(3):228-31. doi: 10.1007/BF00442148.

Authors

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

PMID: 3921377
DOI: 10.1007/BF00442148

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.

Publication types

Case Reports

MeSH terms

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