A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia.

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.