Saal Bulas syndrome

Last updated
Saal Bulas syndrome
Named after
  • Howard M. Saal
  • Dorothy I. Bulas

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.

Contents

Signs and symptoms

This syndrome consists of ectrodactyly or lobster-like hands, diaphragmatic hernia and absence of the corpus callosum. [1]

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

Diagnosis

Treatment

History

The syndrome was first described by American paediatricians Howard M. Saal and Dorothy I. Bulas in 1995. [2]

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References

  1. Bissonnette, Bruno (2006). Syndromes: Rapid Recognition and Perioperative Implications. McGraw Hill Professional. ISBN   9780071354554 . Retrieved 7 March 2018.
  2. Saal, HM; Bulas, DI (July 1995). "Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum". Clinical Dysmorphology. 4 (3): 246–50. PMID   7551162.