ISSN:
1432-1076
Keywords:
Marfanoid phenotype
;
Microspherophakia
;
Mitral and tricuspidal valve prolapse
;
Spinal axonopathy
;
Cerebral white matter hypoplasia
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00442148
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