ISSN:
1432-0533
Keywords:
Waardenburg's syndrome type II
;
Hirschsprung's disease
;
Demyelination
;
Hereditary motor and sensory neuropathy
;
Myelin sheath folding
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary We present clinical and laboratory data from a patient with Waardenburg's syndrome type II comprising iris heterochromia and deafness, complicated by Hirschsprung's disease — a known association -and an unusual demyelinating peripheral neuropathy — a unique association. The neuropathy is characterised by excessive focal folding of myelin sheaths. It is our view that, although both disorders could represent the consequences of neural crest embryopathy, it is more likely that they are associated by chance.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00299420
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