Literature DB >> 3385746

Absence of a vagina and right sided adnexa uteri in the Waardenburg syndrome: a possible clue to the embryological defect.

R M Goodman1, G Oelsner, M Berkenstadt, D Admon.   

Abstract

An 18 year old single Jewish woman with the Waardenburg syndrome and absence of a vagina and right sided adnexa uteri is reported. Other congenital malformations associated with the Waardenburg syndrome are mentioned and it is postulated that they may be the result of an altered invasion of neurones or altered neurones in certain organ systems early in embryogenesis.

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Year:  1988        PMID: 3385746      PMCID: PMC1050467          DOI: 10.1136/jmg.25.5.355

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  4 in total

1.  Congenital deafness and Hirschsprung's disease.

Authors:  V A McKusick
Journal:  N Engl J Med       Date:  1973-03-29       Impact factor: 91.245

2.  Anal atresia and the Klein-Waardenburg syndrome.

Authors:  J Nutman; I Nissenkorn; I Varsano; M Mimouni; R M Goodman
Journal:  J Med Genet       Date:  1981-06       Impact factor: 6.318

3.  Upper limb involvement in the Klein-Waardenburg syndrome.

Authors:  R M Goodman; I Lewithal; A Solomon; D Klein
Journal:  Am J Med Genet       Date:  1982-04

4.  Possible Waardenburg syndrome with gastrointestinal anomalies.

Authors:  J Nutman; R Steinherz; Y Sivan; R M Goodman
Journal:  J Med Genet       Date:  1986-04       Impact factor: 6.318

  4 in total

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