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Saal Bulas syndrome


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Saal Bulas syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Saal Bulas syndrome, or a subtype of Saal Bulas syndrome, affects fewer than 200,000 people in the US population.

Signs and symptoms

This syndrome consists of ectrodactyly or lobster-like hands, diaphragmatic hernia and absence of the corpus callosum.

In addition to these the following problems may also be present.

  • abnormal alimentary tract
  • cardiac septal defect
  • low hair line in front
  • oligodactyly or missing fingers
  • respiratory distress
  • stillbirth/neonatal death

Diagnosis

Treatment

History

The syndrome was first described by American paediatricians Howard M. Saal and Dorothy I. Bulas in 1995.

References

References

  1. (2006). "Syndromes: Rapid Recognition and Perioperative Implications". McGraw Hill Professional.
  2. (July 1995). "Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum.". Clinical Dysmorphology.
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This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

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