The Groll-Hirschowitz syndrome

Clin Genet. 1985 Jul;28(1):76-9. doi: 10.1111/j.1399-0004.1985.tb01221.x.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cachexia / genetics*
  • Deafness / genetics*
  • Demyelinating Diseases / genetics
  • Female
  • Gastrointestinal Diseases / genetics*
  • Humans
  • Pedigree
  • Syndrome