Saal Bulas syndrome

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.[1]

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

History

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

References

Bissonnette, Bruno (2006). Syndromes: Rapid Recognition and Perioperative Implications. McGraw Hill Professional. ISBN 9780071354554. Retrieved 7 March 2018.
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.

External links

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[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.