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  • Title: A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia.
    Author: Parke JT, Riccardi VM, Lewis RA, Ferrell RE.
    Journal: Am J Med Genet; 1984 Mar; 17(3):585-94. PubMed ID: 6711609.
    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.
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