Abstract
We describe two brothers with severe microcephaly, unusual retinal pigmentary anomalies, intellectual function in the average or low average range, and a strong family history of hyperreflexia. The brothers have a previously undescribed syndrome, while the hyperreflexia appears to represent a coincidental autosomal dominant Mendelian trait, perhaps linked to the Kell blood group system.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / blood
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Abnormalities, Multiple / genetics*
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Adult
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Child
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Female
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Fundus Oculi
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Genes, Dominant*
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Genetic Linkage
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Humans
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Infant
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Kell Blood-Group System / genetics
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Male
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Microcephaly / blood
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Microcephaly / genetics*
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Pedigree
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Pigment Epithelium of Eye / pathology*
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Reflex, Abnormal / congenital
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Reflex, Abnormal / genetics*
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Retinal Diseases / blood
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Retinal Diseases / congenital
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Retinal Diseases / genetics*
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Syndrome