Abstract
We describe two sibs with mental retardation, facial anomalies, polydactyly, cerebellar vermis agenesis, and either meningocele or renal cystic dysplasia. The patients' condition appears to belong to a group of cerebro-reno-digital syndromes. Autosomal recessive inheritance is suggested.
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 / genetics*
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Cerebellum / abnormalities*
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Face / abnormalities
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Female
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Genes, Recessive
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Humans
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Infant, Newborn
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Intellectual Disability / genetics*
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Kidney Diseases, Cystic / genetics*
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Male
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Meningocele / genetics
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Pedigree
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Polydactyly / genetics*
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Seizures / genetics
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Syndrome