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[edit | edit source]
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
Diagnosis[edit | edit source]
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Treatment[edit | edit source]
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History[edit | edit source]
The syndrome was first described by American paediatricians Howard M. Saal and Dorothy I. Bulas in 1995.[2]
References[edit | edit source]
External links[edit | edit source]
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