Literature DB >> 920171

Familial dysautonomia in a non-Jewish child.

H Orbeck, G Oftedal.   

Abstract

Few documented cases of Riley-Day syndrome fulfilling current diagnostic criteria have been recognized in non-Jews. In our case the diagnosis was established in a Norwegian child despite the absence of Jewish origin. It represents a report of this syndrome with bilateral pathological changes in the hypothalamus in addition to extensive abnormal findings in the spinal cord and the autonomic ganglia. These findings may have significance with regard to the pathogenesis of the disease.

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Year:  1977        PMID: 920171     DOI: 10.1111/j.1651-2227.1977.tb07988.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN: 0001-656X


  2 in total

1.  Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.

Authors:  A Blumenfeld; S A Slaugenhaupt; C B Liebert; V Temper; C Maayan; S Gill; D E Lucente; M Idelson; K MacCormack; M A Monahan; J Mull; M Leyne; M Mendillo; T Schiripo; E Mishori; X Breakefield; F B Axelrod; J F Gusella
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

2.  Child psychiatric problems in "autonomous dysfunction".

Authors:  A Meijer; R Hovne
Journal:  Child Psychiatry Hum Dev       Date:  1981
  2 in total

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