Abstract
We report on a girl with Giuffrè-Tsukahara syndrome manifesting microcephaly, mental retardation, radio-ulnar synostosis, short stature and scoliosis. Skewed X-inactivation was not observed in our patient. We reviewed previous reports and provide evidence in support of X-linked dominant inheritance of this condition.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Female
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Genes, Dominant
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Genetic Diseases, X-Linked / genetics*
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Genetic Diseases, X-Linked / pathology
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Growth Disorders / genetics*
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Growth Disorders / pathology
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Humans
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Infant, Newborn
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Microcephaly / genetics*
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Microcephaly / pathology
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Scoliosis / genetics*
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Scoliosis / pathology
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Syndrome
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Synostosis / genetics*
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Synostosis / pathology