Abstract
We report on a female patient with G syndrome. The clinical expression is relatively severe and includes 2 manifestations not previously reported, ie, agenesis of the corpus callosum and umbilical hernia. These new findings support the notion that there is a developmental defect of the midline as the basis of the G syndrome.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / genetics*
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Agenesis of Corpus Callosum*
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Bone Diseases, Developmental / genetics*
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Corpus Callosum / diagnostic imaging
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Deglutition Disorders / genetics*
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Female
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Hernia, Diaphragmatic / genetics*
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Hernia, Hiatal / diagnostic imaging
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Hernia, Hiatal / genetics*
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Hernia, Umbilical / genetics*
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Humans
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Hypertelorism / genetics*
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Infant
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Syndrome
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Tomography, X-Ray Computed