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Related Experiment Videos

[Feingold syndrome].

J L Alessandri1, D Graber, I Tiran-Rajaofera

  • 1Service de réanimation néonatale et pédiatrique, centre hospitalier départemental Félix-Guyon, Saint-Denis, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|July 27, 2000
PubMed
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Feingold syndrome is characterized by limb anomalies, microcephaly, and developmental delay. Specific finger and toe malformations, like brachymesophalangy, are key diagnostic indicators.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Feingold syndrome presents with a constellation of congenital anomalies including limb malformations, microcephaly, and developmental delay.
  • It is inherited in an autosomal dominant pattern with variable expressivity and full penetrance for hand anomalies.
  • Key physical findings include clinodactyly and syndactyly of the digits.

Observation:

  • A case report details an African boy with duodenal atresia, microcephaly, brachymesophalangy of the second and fifth fingers, thumb hypoplasia, and syndactyly of toes.
  • The patient's karyotype was normal, and no other family members were affected, suggesting a possible new mutation.
  • This presentation highlights specific limb anomalies within the spectrum of Feingold syndrome.

Findings:

Related Experiment Videos

  • Brachymesophalangy of the second and fifth fingers and amesophalangy of the lateral toes are cardinal clinical findings in Feingold syndrome.
  • These findings align with the definition of brachydactyly A4-Temtamy type, suggesting it may represent a partially expressed form of Feingold syndrome.
  • Esophageal or duodenal atresia occurs in 29% of Feingold syndrome cases, and reported patients typically have normal karyotypes.

    • Implications:

    • Recognizing these specific brachydactyly patterns aids in the diagnosis of Feingold syndrome.
    • The findings suggest a potential overlap or phenotypic variability between Feingold syndrome and brachydactyly A4-Temtamy type.
    • Further research into the genetic underpinnings and phenotypic spectrum of Feingold syndrome is warranted.