Abstract
We report on a 6-year-old girl with short stature, facial anomalies, cutis aplasia, nasolacrimal duct obstruction, megalocorneae, kyphoscoliosis with multiple segmentation defects of the thoracic vertebrae, and 11 pairs of ribs. These anomalies together may represent a newly recognized syndrome.
MeSH terms
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Abnormalities, Multiple / diagnostic imaging
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Abnormalities, Multiple / genetics*
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Body Height
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Child
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Eye Abnormalities / genetics*
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Face / abnormalities
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Female
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Humans
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Radiography
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Scoliosis / diagnostic imaging
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Scoliosis / pathology
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Skin Abnormalities / genetics*
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Syndrome
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Thoracic Vertebrae / abnormalities*
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Thoracic Vertebrae / diagnostic imaging