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Related Experiment Videos

Acrocallosal syndrome: a case report

E Bonatz1, M Descartes, J R Tamarapalli

  • 1Division of Orthopaedic Surgery, University of Alabama at Birmingham, USA.

The Journal of Hand Surgery
|May 1, 1997
PubMed
Summary

Schinzel acrocallosal syndrome shares similarities with Greig syndrome. This case suggests they may be expressions of the same autosomal dominant condition, with surgery potentially improving hand and foot function.

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Case Reports

Background:

  • Schinzel acrocallosal syndrome is a rare genetic disorder.
  • Greig syndrome is characterized by limb abnormalities and hypertelorism.
  • The patient presented with features suggestive of Schinzel acrocallosal syndrome.

Observation:

  • An 18-month-old male infant exhibited clinical and radiological signs of Schinzel acrocallosal syndrome.
  • The infant's father had a diagnosis of Greig syndrome.
  • The infant underwent surgical correction for preaxial polysyndactyly in both hands and feet.

Findings:

  • The case highlights significant clinical overlap between Schinzel acrocallosal syndrome and Greig syndrome.
  • The findings suggest that these syndromes might represent variable expressions of a single autosomal dominant genetic condition.
  • Surgical intervention for polysyndactyly demonstrated potential benefits for thumb opposition and footwear.

Implications:

  • Further research into the genetic basis of these syndromes is warranted.
  • Understanding the relationship between Schinzel acrocallosal syndrome and Greig syndrome can aid in diagnosis and genetic counseling.
  • Surgical outcomes suggest improved functional and cosmetic results for affected individuals.

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