The Groll‐Hirschowitz syndrome
2008
Two sisters showed a similar disorder with cachexia, sensory deafness, and upper gastrointestinal abnormalities. The family pedigree suggests autosomal recessive inheritance of the disorder. Demyelinization demonstrated by a peripheral nerve biopsy may explain the basis for the manifestations.
Only one family with this unique syndrome has been reported in the literature.
The term “The Groll-Hirschowitz Syndrome” has been suggested, named after the two physicians who first described this condition.
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