Abstract
Further Delineation of the KBG syndrome: We present a mother and her daughter with clinical features of KBG syndrome, including mild mental retardation, distinct facial features, macrodontia and skeletal anomalies. In the daughter, a heart defect (ventricular septal defect) was present.
MeSH terms
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Abnormalities, Multiple*
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Adult
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Bone and Bones / abnormalities*
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Bone and Bones / diagnostic imaging
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Child
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Face / abnormalities*
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Face / diagnostic imaging
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Family
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Female
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Fingers / abnormalities*
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Fingers / diagnostic imaging
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Humans
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Infant, Newborn
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Intellectual Disability / genetics*
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Male
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Radiography
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Syndrome