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Pedigree analysis uncovers a novel intellectual disability and dysmorphic syndrome in a multigenerational family, suggesting autosomal dominant inheritance with variable expressivity.
Many members of one family have a unique syndrome of mental retardation, small stature, retarded bone age, hypotonia, tapering fingers, a characteristic facies which includes hypertelorism, upturned nares, and prominent frontal region, and possibly arrested hydrocephalus. The evidence suggests an autosomal dominant gene with variable expressivity as the cause of the syndrome.
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Brian Lowry (1971) studied this question.
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