Abstract
A previously undescribed genetic syndrome with multiple congenital malformations is described. The major components include: 1) horseshoe kidneys; 2) severe mental retardation; 3) characteristic facies; and 4) heart defects. Evidence for considering it to be an autosomal recessive syndrome is also discussed.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Abnormalities, Multiple / genetics
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Adolescent
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Face / abnormalities*
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Female
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Genes, Recessive*
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Heart Defects, Congenital / genetics*
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Humans
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Infant, Newborn
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Intellectual Disability / genetics
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Kidney / abnormalities*
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Male
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Pedigree
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Syndrome