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Related Experiment Videos

Imperforate anus in Feingold syndrome.

V Büttiker1, J Wojtulewicz, M Wilson

  • 1Department of Neonatology, Royal Alexandra Hospital for Children, Westmead, New South Wales, Australia.

American Journal of Medical Genetics
|May 19, 2000
PubMed
Summary

Feingold syndrome, a rare genetic disorder, was observed in a father and daughter with characteristic physical findings. The study highlights a novel association with distal intestinal atresia, expanding the known spectrum of this condition.

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Feingold syndrome is a rare genetic disorder characterized by distinct facial features and limb abnormalities.
  • Previous literature has documented various congenital anomalies associated with Feingold syndrome, but gastrointestinal atresias have been infrequently reported.

Observation:

  • A father and daughter presented with classic Feingold syndrome manifestations, including microcephaly, short palpebral fissures, brachydactyly, and syndactyly.
  • The daughter exhibited long-gap esophageal atresia (type A), while the father had a history of imperforate anus with a recto-vesical fistula.

Findings:

  • This report details the first documented instance of distal intestinal atresia occurring in conjunction with Feingold syndrome.
  • The co-occurrence of multiple gastrointestinal anomalies in this familial case suggests a potential link between Feingold syndrome and intestinal development.

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Implications:

  • The findings expand the phenotypic spectrum of Feingold syndrome, indicating a broader range of potential congenital anomalies.
  • This case underscores the importance of thorough gastrointestinal evaluation in individuals diagnosed with Feingold syndrome.
  • Further research is warranted to elucidate the genetic mechanisms underlying the association between Feingold syndrome and intestinal atresias.