Abstract
We describe two sibs with prenatal-onset growth deficiency, microcephaly, cataracts, mental retardation, enamel hypoplasia, immune deficiency, and generalized delay of ossification. The combination appears to constitute a previously undescribed autosomal recessive syndrome.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Cataract / genetics*
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Child, Preschool
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Dwarfism / genetics*
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Female
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Genes, Recessive
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Humans
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Immunologic Deficiency Syndromes / genetics
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Intellectual Disability / genetics
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Microcephaly / genetics*
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Osteogenesis
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Syndrome