Literature DB >> 7241550

Anal atresia and the Klein-Waardenburg syndrome.

J Nutman, I Nissenkorn, I Varsano, M Mimouni, R M Goodman.   

Abstract

A 3-month-old male infant with type I Klein-Waardenburg syndrome with an imperforated anus and a perineal fistula is reported. The possible association of this gastrointestinal malformation with the KW syndrome is discussed.

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Mesh：

Year:  1981        PMID： 7241550      PMCID： PMC1048715          DOI： 10.1136/jmg.18.3.239

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


  6 in total

1.  Deafness as part of an hereditary syndrome.

Authors:  L FISCH
Journal:  J Laryngol Otol       Date:  1959-06       Impact factor: 1.469

2.  A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.

Authors:  P J WAARDENBURG
Journal:  Am J Hum Genet       Date:  1951-09       Impact factor: 11.025

3.  The association of Waardenburg syndrome and Hirschsprung megacolon.

Authors:  G S Omenn; V A McKusick
Journal:  Am J Med Genet       Date:  1979

4.  Associated malformation with anal and rectal atresiae.

Authors:  W Hasse
Journal:  Prog Pediatr Surg       Date:  1976

Review 5.  The syndromology of anorectal malformation (atresia, stenosis, ectopia).

Authors:  L Pinsky
Journal:  Am J Med Genet       Date:  1978

Review 6.  Heterogeneity in Waardenburg syndrome.

Authors:  M J Hageman; J W Delleman
Journal:  Am J Hum Genet       Date:  1977-09       Impact factor: 11.025
  6 in total
  3 in total

1.  Townes-Brocks syndrome.

Authors:  R König; U Schick; S Fuchs
Journal:  Eur J Pediatr       Date:  1990-12       Impact factor: 3.183

2.  Genetic heterogeneity in Waardenburg's syndrome.

Authors:  M L Kulkarni; M Kurian; G Guruprasad; M S Panchakshariah
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318

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

Authors:  R M Goodman; G Oelsner; M Berkenstadt; D Admon
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318
  3 in total

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